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+There are several alleles. The sequence shown is that of IMGT allele TRAV41*01
+Many isoforms of the allergen exist due to polymorphism. They can be classified as isoforms of type A (shown here) and isoforms of type B. A microheterogeneity is detected at positions 4 and 11 of isoforms of type A and at positions 4, 5, 10 and 11 of isoforms of type B
+There are two forms of NAT2: a rapid isoform (NAT2*21A) and a slow isoform (NAT2*21B)
+There are several alleles. The sequence shown is that of IMGT allele TRGJ1*02
+There are several alleles. The sequence shown is that of IMGT allele TRBV29-1*01
+Variants Thr-191 and Ala-191 interfere with binding of the anti-NK1.1 monoclonal antibody PK136 which identifies NK cells from C57BL/6 and SJL but not BALB/c mice by binding Klrb1b and Klrb1c in an allele-dependent manner. Mutagenesis of Thr-191 to Ser-191 restores NK1.1 reactivity to Klrb1b from BALB/c mice
+Several isoforms of the allergen exist due to polymorphism
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-23*04
+There are two alleles; one major, FMO6X105 (truncated form) and one minor, FMO6Q105, (shown here) (full-length form similar to the protein found in other mammals) (PubMed:12527699). A nonsense mutation transforms the Gln-105 into a premature stop codon (PubMed:12527699). The truncated protein is catalytically inactive (PubMed:12527699)
+A stop codon in the gene coding for this protein at position Lys-185 is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in non-Africans than in African-Americans
+The HA-1H allele is presented on the cell surface and recognized by CTL, whereas the HA-1R allele is poorly represented by HLA-A and non-immunogenic, although HA-1R allelic frequency is the highest (PubMed:9820595, PubMed:16399573)
+There seems to be four variants of IFN-tau 1: A, B (shown here), C and D
+Variations in CYP39A1 are associated with elevated serum (24S)-hydroxycholesterol levels among a cohort of American residents
+There are several alleles. The sequence shown is that of IMGT allele TRGV10*01
+Genetic variants in SLC45A2 define the skin/hair/eye pigmentation variation locus 5 (SHEP5) [MIM:227240]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair
+Variant present in the strains cv. Autumn Gold, cv. Desert Storm, cv. Salinas 88 and cv. Vanguard 75, alleles mo1(2) and Ls-eIF4E(2), confers an increased resistance to lettuce mosaic virus (LMV)
+Variant present in the strains cv. Alize, cv. Classic, cv. Floribibb, cv. Malika, cv. Mantilia, cv. Oriana and cv. Presidio, alleles mo1(1) and Ls-eIF4E(1), confers an increased resistance to lettuce mosaic virus (LMV)
+The number of repeats is polymorphic and varies among different alleles (PubMed:2851479)
+The poly-Ser region of E2F4 is polymorphic and the number of Ser varies in the population (from 8 to 17). The variation might be associated with tumorigenesis
+Allele B is shown, monogyne population from Brazil
+There are several alleles. The sequence shown is that of IMGT allele IGLV1-36*01
+There are several alleles. The sequence shown is that of IMGT allele TRAJ3*01
+Exists in three separable isoforms which originate from two alleles in the genome. These correspond to two homodimers and one heterodimer composed of two subunits showing different electrophoretic properties
+Variations in ALX1 may play a key role in beak morphology. Two haplotypes for this gene are observed within the different species of finches. The B haplotype is almost exclusively found in individuals with a blunt beak while the P haplotype is neatly associated with individuals having a peaked beak. There are 335 fixed differences aggregated in the vicinity of the gene between B and P haplotypes including 2 missense mutations at positions 112 and 211. In the medium ground finch, Geospiza fortis which exhibits high intraspecies variation in beak shape, both haplotypes have been reported but a significant association with beak shape has also been observed. Finch beak morphology observed on the Galapagos Islands was used by Charles Darwin to formulate his theory of evolution
+Variations in CX3CR1 are associated with rapid progression to AIDS [MIM:609423]. Increased susceptibility to HIV infection and rapid progression to AIDS are associated with the Ile-249/Met-280 haplotype
+There are several alleles. The sequence shown is that of IMGT allele IGLV2-18*01
+Allelic variations in TYR may be associated with coat color phenotype in siamese and burmese cats. The coat color trait is autosomal recessive
+Genetic variations at the ADCY3 locus define the body mass index quantitative trait locus 19 (BMIQ19) [MIM:617885]. Variance in body mass index is a susceptibility factor for obesity
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-48*03
+There are several alleles. The sequence shown is that of IMGT allele TRBV28*01
+There are several alleles. The sequence shown is that of IMGT allele IGLC2*02
+The following alleles of DOA are known: DOA*01:01, DOA*01:02 and DOA*01:03. The sequence shown is that of DOA*01:01
+Sequenced in lineages GB01 to GB26
+There are two alleles; GSTM1A and GSTM1B which differ in position 173. The sequence shown is that of allele GSTM1A
+There are several alleles. The sequence shown is that of IMGT allele IGKV6D-41*01
+The poly-His region of MEOX2 is polymorphic and the number of His varies in the population
+There are several alleles. The sequence shown is that of IMGT alleleTRBV12-4*01
+The poly-alanine tract is polymorphic in the general population and contains a maximum of 14 alanines
+Inbred mouse strains possess 1 of 4 alleles at the HBB locus: D (diffuse), S (single), P and W1. The D and P alleles are actually closely linked doublets that coordinately express a major and a minor chain, the minor chain being slightly different in the two alleles. The S allele produces only 1 chain, it is characteristic of North American wild mice. The W1 allele is observed mainly in Northwestern China
+The sequence of the repeats varies across Plasmodium species and strains
+Variant present in the strain cv. PI 347464, allele A-5, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. JI 1546, allele A-2, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. JI 1787, allele 1, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strains cv. JI 1194, cv. CGN-3311, cv. ATC-7140, cv. ATC-3275, cv. ATC-7134, cv. IPK-477 and cv. CGN-3319, allele B-1, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. CGN-3302, allele A-1, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. PI 269774, allele A-7, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. PI 347328, allele S-2, confers susceptibility to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. JI 2646, allele S-7, confers susceptibility to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strains cv. JI 1091 and JI 3001, allele S-1, confers susceptibility to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. JI 1632, allele S-4, confers susceptibility to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. JI 2630, allele S-1, confers susceptibility to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strains cv. JI 2643, cv. Fjord, cv. JI 261, cv. JI 194, cv. JI 205, cv. JI 1109, cv. JI 267, cv. PI 505122, cv. PI 639981, cv. JI 1104, cv. JI 1108, cv. ATC-6927, cv. ATC-7173, cv. JI 1758, cv. JI 1030, cv. JI 190, cv. PI 357290, cv. JI 193, cv. JI 2607, cv. JI 2571, cv. JI 1107, cv. JI 1085, cv. JI 2065, cv. JI 1121, cv. JI 1756, cv. JI 182 and cv. JI 3157, alleles S-1, eIF4E(S) and C-1, confers susceptibility to pea seed-borne mosaic virus (PSbMV)
+Variant present in the strain cv. Dark skinned Perfection, confers susceptibility to bean yellow mosaic virus (BYMV) pathotype W
+Variant present in the strains cv. JI 2009, alleles susceptible and SBM1, confers susceptibility to pea seed-borne mosaic virus (PSbMV) pathotypes 1 and 4
+Variant present in the strain cv. JI 1405, allele resistant-1, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. PI 269818, alleles resistant-2, sbm1, eIF4E(R) and A-6, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. Bonneville, confers susceptibility to bean yellow mosaic virus (BYMV) pathotype W
+Variant present in the strain cv. Brutus, confers susceptibility to bean yellow mosaic virus (BYMV) pathotype W
+Variant present in the strain cv. JI 1007, allele S-5, confers susceptibility to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. JI 1010, allele S-6, confers susceptibility to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strains cv. PI 347422, cv. ATC-6931 and cv. PI 347484, allele S-3, confers susceptibility to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. JI 1845, allele S-1, confers susceptibility to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. JI 1090, allele B-3, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. JI 1370, allele B-2, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. PI 378158, allele A-4, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+Variant present in the strain cv. VIR 1589, allele C-2, confers an increased resistance to pea seed-borne mosaic virus (PSbMV) pathotype P1
+The Gov(b) variant in position 703 defines the Gov alloantigenic determinants
+Strains C3H/HeJ and CBA/J are resistant to vasoactive amine sensitization elicited by histamine (VAASH) which is induced by pertussis toxin
+A polymorphism in position 149 is associated with a higher risk of coronary artery disease (CAD). A significantly higher mutation frequency (Arg-149) is observed in patients with angiographically proven severe atherosclerosis compared with an unselected population (Ser-149)
+Genetic variations in KLF1 underlie the fetal hemoglobin quantitative trait locus 6 (HBFQTL6) [MIM:613566]. Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. In healthy adults, fetal hemoglobin (HbF) is present at residual levels (less than 0.06% of total hemoglobin) with over 20-fold variation. Ten to fifteen percent of adults fall within the upper tail of the distribution
+Genetic variations in KLF1 underlie the blood group-Lutheran inhibitor (In(Lu)) phenotype [MIM:111150]; also known as dominant Lu (a-b-) phenotype. In(Lu) is characterized phenotypically by the apparent absence of the Lu antigen (BCAM) on red blood cells during serologic tests: Lu(a-b-)
+The Arg-971 polymorphism impairs the ability of insulin to stimulate glucose transport, glucose transporter translocation, and glycogen synthesis by affecting the PI3K/AKT1/GSK3 signaling pathway. The polymorphism at Arg-971 may contribute to the in vivo insulin resistance observed in carriers of this variant. Arg-971 could contribute to the risk for atherosclerotic cardiovascular diseases associated with non-insulin-dependent diabetes mellitus (NIDDM) by producing a cluster of insulin resistance-related metabolic abnormalities. In insulin-stimulated human endothelial cells from carriers of the Arg-971 polymorphism, genetic impairment of the IRS1/PI3K/PDPK1/AKT1 insulin signaling cascade results in impaired insulin-stimulated nitric oxide (NO) release and suggested that this may be a mechanism through which the Arg-971 polymorphism contributes to the genetic predisposition to develop endothelial dysfunction and cardiovascular disease. The Arg-971 polymorphism not only reduces phosphorylation of the substrate but allows IRS1 to act as an inhibitor of PI3K, producing global insulin resistance
+Segregating pseudogene, locus showing both intact and pseudogene forms in the population. A single nucleotide deletion at position Lys-229 in the gene coding for this protein is responsible for functional diversity, producing a pseudogene
+There are several alleles. The sequence shown is that of IMGT allele IGKV1-16*02
+There seems to be four variants of IFN-tau 6: A/p6V3, B/p6V2, C/p6V1 and D/P6/p12 (shown here)
+The poly-Ala region of SKIDA1 is highly polymorphic and the number of Ala can vary
+Variation is correlated with coat color. MC1R*2 is associated with the black color of European large black and Chinese meishan pigs. MC1R*3 is associated with the black color in the hampshire breed. MC1R*4 is found in recessive red animals
+A polymorphism in the promoter region (5-HTT gene-linked polymorphic region, 5-HTTLPR) is located approximately 1 kb upstream of the transcription initiation site and is composed of 16 repeat elements. The polymorphism consists of a 44-bp insertion or deletion involving repeat elements 6 to 8. The short allele is associated with lower transcriptional efficiency of the promoter compared with the long allele. Over half of the Caucasian population has a short allele. Individuals with one or two copies of the short allele exhibit more depressive symptoms, diagnosable depression and suicidality in relation to stressful life events than individuals homozygous for the long allele
+The 5-HTTLPR polymorphism may influence susceptibility to anxiety [MIM:607834]
+The polymorphism Val-425 seems to be linked to a susceptibility to obsessive-compulsive disorder (OCD) [MIM:164230]
+Genetic variations in SLC6A4 determine the genetic susceptibility to alcoholism [MIM:103780]
+Polymorphisms that alter SLC6A4 expression or function may increase the susceptibility to autism
+The sequence variants between males and females could be due to differences between individual animals, reflect gender differences or arise from technical problems (PubMed:9920943). The sequence shown here is that of a Sprague-Dawley female
+There are several alleles. The sequence shown is that of IMGT allele IGKV1D-33*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV7-2*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV8-6*01
+The following alleles are known: KIR2DS5*001, KIR2DS5*002, KIR2DS5*003, KIR2DS5*004, KIR2DS5*005, KIR2DS5*006, KIR2DS5*007, KIR2DS5*008, KIR2DS5*009, KIR2DS5*010 and KIR2DS5*011. Allele KIR2DS5*002 is represented in this entry. Allele KIR2DS5*001 product is not expressed at the surface (PubMed:24269691, PubMed:18682925). In Europeans, KIR2DS5 is essentially monomorphic, with allele KIR2DS5*002 being predominant (PubMed:28685972). However, KIR2DS5 is highly polymorphic in Africans (PubMed:28685972). Alleles KIR2DS5*003, KIR2DS5*004, KIR2DS5*005, KIR2DS5*006, KIR2DS5*007 and KIR2DS5*008 have activating potential and recocognize C2 epitopes of HLA-C alleles (PubMed:28685972). Alleles KIR2DS5*002, KIR2DS5*009, KIR2DS5*010 and KIR2DS5*011 have activating potential but do not recocognize (or with very slight avidity) C2 epitopes of HLA-C alleles (PubMed:28685972). Allele KIR2DS5*006 protects pregnant women from pre-eclampsia (PubMed:28685972). Allele KIR2DS5*003 has increased glycosylation levels due to the variant Asn-144 instead of Ser-144, it also has increased cell surface expression. Alleles with variant Gly-179 instead of Arg-179 show lower levels of glycosylation (PubMed:24269691)
+Genetic variations in the IRGM promoter determine Mycobacterium tuberculosis susceptibility [MIM:607948] (PubMed:19750224). People that are homozygote for -261C-T (rs9637876) variant, which is located within an Alu sequence in the promoter region, are associated with protection from M.tuberculosis (PubMed:19750224). In contrast, -261T-T allele is significantly associated with protection from pulmonary tuberculosis caused by M.tuberculosis, but not by M.africanum, a strain restricted to West Africa, or M.bovis (PubMed:19750224)
+The OR gene possesses two alleles in melon, one associated with orange flesh (AC A0A0D3MU50) and the second being associated with either white or green flesh (this entry). A single SNP between the two alleles causes a change of an evolutionarily highly conserved Arg in position 108 to His (AC A0A0D3MU50). The Arg and His alleles are responsible for the non-orange and orange melon fruit phenotypes, respectively. This findings could serve as a novel genetic tool to enrich carotenoid content in transgenic crops
+There are several alleles. The sequence shown is that of IMGT allele TRAV22*01
+There are several alleles. The sequence shown is that of IMGT allele IGLV1-51*01
+Complement component C1r deficiency [MIM:216950] leads to the failure of the classical complement system activation pathway (C1 deficiency). Individuals with C1 deficiency are highly susceptible to infections by microorganisms and have greater risk in developing autoimmune diseases such as systemic lupus erythematosus (SLE)
+There are several alleles. The sequence shown is that of IMGT allele IGKV3-20*01
+The cultivar Taichung 65 exhibits a long basic vegetative growth and reduced response to photoperiod due to loss-of-function alleles of HD1 and EHD1. This confers almost constant and sufficient vegetative growth periods even in low latitudes where short photoperiod conditions continue almost throughout the year
+Genetic variations in MRAP2 define the body mass index quantitative trait locus 18 (BMIQ18) [MIM:615457]. Variance in body mass index is a susceptibility factor for obesity
+There at least 2 alleles for OR4E1. A non-functional allele results from a polymorphism at position 197 (dbSNP rs199890040), which leads to a frameshift, premature truncation of the coding region and hence pseudogenization. The presence of various combinations of functional (olfactory receptors) and non-functional (olfactory receptor segregating pseudogenes) alleles may underlie differences in olfactory sensitivity between individuals (hyperosmia, hyposmia or even anosmia)
+Genetic variations in ZBTB38 define the stature quantitative trait locus 10 (STQTL10) [MIM:612221]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits
+Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments (PubMed:15955084). Allele shown is KAP4.15 (PubMed:15955084)
+The poly-Gln region of ATXN7 is highly polymorphic (4 to 18 repeats) in the normal population and is expanded to about 38-130 repeats in SCA7 patients. Intermediate alleles with 28 to 35 repeats are prone to further expansion
+There are several alleles. The sequence shown is that of IMGT allele IGKV2D-26*01
+Genetic variations in PLS3 define the bone mineral density quantitative trait locus 18 (BMND18) [MIM:300910]. Variance in bone mineral density influences bone mass, contributes to size determination in the general population, and is a susceptibility factor for osteoporotic fractures
+A one-base insertion, introducing a frameshift at position 22, results in inactivation of the gene in a majority of the population. That polymorphism is a good marker for predicting spontaneous hepatitis C virus (HCV) clearance and the response to treatment of chronic hepatitis C. The allele producing a functional protein able to induce an antiviral response and to prevent HCV replication in cell cultures, is less frequent in human populations and is associated with impaired spontaneous clearance of HCV
+There are several alleles. The sequence shown is that of IMGT allele IGHV4-38-2*02
+GCNT2 is involved in determining the blood group I system (Ii) [MIM:110800]. The i (fetal) and I (adult) antigens are determined by linear and branched poly-N-acetyllactosaminoglycans, respectively. A replacement during development of i by I is dependent on the appearance of a beta-1,6-N-acetylglucosaminyltransferase, the I-branching enzyme. The expression of the blood group I antigen in erythrocytes is determined by isoform C of GCNT2
+The variant Ser-374 is unique to C57BL strains. It may confer the low iron phenotype observed in these strains
+Genetic variations in HFE define the transferrin serum level quantitative trait locus 2 (TFQTL2) [MIM:614193]. Iron is essential for biochemical functions such as oxygen transport and oxidative phosphorylation. Excessive iron can cause iron-overload-related liver diseases, whereas iron deficiency can lead to anemia. Iron status can be assessed by measuring the levels of serum iron, serum transferrin, transferrin saturation with iron, and serum ferritin
+Genetic variations in CASP8 are associated with reduced risk of lung cancer [MIM:211980] in a population of Han Chinese subjects. Genetic variations are also associated with decreased risk of cancer of various other forms including esophageal, gastric, colorectal, cervical, and breast, acting in an allele dose-dependent manner
+Polymorphisms dbSNP:rs37972 and dbSNP:rs37973, located in GLCCI1 promoter region, are associated with a decreased response to glucorticoid treatment [MIM:614400] in asthma patients (PubMed:21991891), as well as in chronic obstructive pulmonary disease patients (PubMed:22187997). The mean increase in forced expiratory volume in 1 second in glucorticoid treated subjects who are homozygous for the mutant (G) rs37973 allele is only about one-third of that seen in similarly treated subjects who are homozygous for the wild-type allele (A) (PubMed:21991891). These polymorphisms affect GLCCI1 transcription level
+The length of the poly-Gln region is variable in the population
+Along with GYPA, GYPB is responsible for the MNS blood group system. The molecular basis of the S/s blood group antigen is a single variation in position 48; Thr-48 corresponds to s=MSN4 and Met-48 to S=MNS3
+AQP3 is responsible for the GIL blood group system. Isoform 2 is detected in GIL-negative individuals that lack functional AQP3
+Genetic variants in SLC24A5 define the skin/hair/eye pigmentation variation locus 4 (SHEP4) [MIM:113750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair
+The Ala-111 allele predominates (93 to 100%) in African and East Asian populations. In contrast, the Thr-111 allele is nearly fixed (98.7 to 100%) in European populations, is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations
+An intronic G-to-A transition (rs2535913) has been associated with leukocyte telomere length. The minor A allele is associated with shorter telomeres and lower expression in lymphoblastoid cells and in sun-exposed skin (PubMed:25624462)
+CYP4A11v seems to be a rare allelic variant of CYP4A11, it seems to be unstable and not to metabolize lauric acid
+There are several alleles. The sequence shown is that of IMGT allele TRBV12-5*01
+There are a total of 50 different S alleles in B.oleracea
+There are several alleles. The sequence shown is that of IMGT allele IGHV7-4-1*01
+The Phe-412 allele (dbSNP:rs3775291) occurs with a frequency of 30% in populations with European and Asian ancestry, and confers some natural resistance to HIV-1 infection
+GABRB3 variants may be associated with insomnia, a condition of inability to initiate or maintain sleep [MIM:137192]
+There are four alleles due to the variations in positions 654 and 655. Allele B1 (Ile-654/Ile-655) has a frequency of 0.782; allele B2 (Ile-654/Val-655) has a frequency of 0.206; allele B3 (Val-654/Val-655) has a frequency of 0.012
+A single nucleotide deletion at position Leu-17 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene
+Variations in CCR2 are associated with relative resistance to immunodeficiency virus type 1 (resistance to HIV-1) [MIM:609423]
+Genetic variations in ADAMTS13 coding region influence plasmatic ADAMTS13 activity levels. Dependent on the sequence context, the same polymorphisms might be either positive or negative modifiers of gene expression, thereby altering the phenotype of ADAMTS13 deficiency
+There seem to be two variants of IFN-tau 3: A/P8V1 (shown here) and B/P8V3
+There are two allelic forms
+Several alleles exist depending on both the number of zinc finger C2H2 type domains and their identity (PubMed:26833727). Each allele binds to a specific hotspot set (PubMed:26833727). Variations in the zinc finger C2H2 type domains are associated with significant differences in affinity towards DNA-binding motif (PubMed:26833727). The sequence shown is that of allele B
+Carriers of the 22-Glu-Lys-23 allele are relatively more resistant to the effects of GCs with respect to the sensitivity of the adrenal feedback mechanism than non-carriers, resulting in a better metabolic health profile. Carriers have a better survival than non-carriers, as well as lower serum CRP levels. The 22-Glu-Lys-23 polymorphism is associated with a sex-specific, beneficial body composition at young-adult age, as well as greater muscle strength in males
+Expression of alpha(1,3)-fucosyltransferase in plasma can vary among different populations. 9% of individuals on the isle of Java (Indonesia) do not express this enzyme. Ninety-five percent of plasma alpha(1,3)-fucosyltransferase-deficient individuals have Lewis negative phenotype on red cells, suggesting strong linkage disequilibrium between these two traits. Variations in FUT6 are responsible for plasma alpha(1,3)-fucosyltransferase deficiency [MIM:613852]
+NZB mice express 10 to 100 fold more Ifi202 in spleen than B6 or NZW mice (PubMed:11567633). This could account for the high susceptibility of NZB mice to systemic lupus (PubMed:11567633)
+The number of GQ repeats at position 179 is polymorphic
+Genetic variation in NOS1AP influences the electrocardiographic QT interval [MIM:610141]. The QT interval is defined as the time from the beginning of the Q wave to the end of the T wave, representing the duration of ventricular electrical activity. The QT interval, a measure of cardiac repolarization, is a genetically influenced quantitative trait with considerable medical relevance: both high and low values are associated with increased risk of cardiovascular morbidity and mortality
+C1-1162 and C1-1170 alleles are identical to the wild-type sequence. The C1-I allele is a dominant negative mutant which inhibits pigment formation
+There are two alleles. The sequence shown is that of alpha-1
+Variant present in strain cv. Zhongshu 5, confers an increased resistance to potyvirus cucumber mosaic virus (CMV) and tobacco mosaic virus (TMV) and tolerance to plum pox virus (PPV)
+Four electrophoretic alleles of NP are known; NPA (shown here), NPB, NPC and NPD
+There are several alleles. The sequence shown is that of IMGT allele IGKV1-27*01
+Contains at least 10 polymorphisms. Those that lead to amino acid substitutions may alter protein secondary structures and may influence male fertility
+Two forms of the protein have been found, MOT-1, found in mortal cells and MOT-2, found in immortal cells. The sequence of MOT-2 is shown here
+KEL is responsible for the Kell blood group system. The molecular basis of the K=KEL1/k=KEL2 blood group antigens is a single variation in position 193; Thr-193 corresponds to KEL2 and Met-193 to KEL1 (PubMed:7849312). The molecular basis of the Kpa=KEL3/Kpb=KEL4/Kpc=KEL21 blood group antigens is a single variation in position 281; Arg-281 corresponds to KEL4, Trp-281 to KEL3 and Gln-281 to KEL21 (PubMed:8669078). The molecular basis of the Jsa=KEL6/Jsb=KEL7 blood group antigens is a single variation in position 597; Leu-597 corresponds to KEL7 and Pro-597 to KEL6 (PubMed:7570911). The molecular basis of the KEL11/KEL17 blood group antigens is a single variation in position 302; Val-302 corresponds to KEL11 and Ala-302 to KEL17 (PubMed:8669078). The molecular basis of the KEL14/KEL24 blood group antigens is a single variation in position 180; Arg-180 corresponds to KEL14 and Pro-180 to KEL24 (PubMed:9354821)
+There are several alleles. The sequence shown is that of IMGT allele TRGV2*03
+The sequence shown is that of the M1V allele which is the most common form of PI (44 to 49%). Other frequent alleles are: M1A 20 to 23%; M2 10 to 11%; M3 14 to 19%
+There are two common alleles; fast and slow. The sequence of fast is shown here
+Two forms exist; alpha-1a (shown here) and alpha-1b (PubMed:11032395)
+A number of strains are susceptible to insecticides while others are resistant. Insensitivity to insecticides results from a loss of sensitivity of acetylcholinesterase to organophosphates and carbamates and is due to a variant at position 97
+There are several alleles. The sequence shown is that of IMGT allele IGKV2D-40*01
+The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 577 in the reference genome, leading to ACTN3 deficiency. However, the presence of this variant is not associated with any disease phenotype [MIM:617749]. The sequence shown in this entry is that of variant p.Ter577Arg, which has a frequency of about 62% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2)
+Allele B is shown, polygyne population from Argentina
+Different polymorphic variants of transferrin are known. The sequence shown is the predominant electrophoretic variant (C1 or TF*C1)
+Genetic variations in CHRM2 can influence susceptibility to alcoholism [MIM:103780]
+At least two alleles exist. The sequence of the A allele is shown here. The D allele sequence differs from that shown in having a deletion of nine residues, which may be 49-58, 50-59, or 51-60
+Six alleles of CD1E are known. CD1E*01 has His-102/Gln-106/Ser-149/Arg-164/Leu-194, CD1E*02 has His-102/Arg-106/Ser-149/Arg-164/Leu-194, CD1E*03 (9L) has His-102/Gln-106/Ser-149/Trp-164/Leu-194, CD1E*04 (15L) has His-102/Gln-106/Ser-149/Arg-164/Pro-194, CD1E*05 has Arg-102/Arg-106/Ser-149/Arg-164/Leu-194 and CD1E*06 has His-102/Arg-106/Asn-149/Arg-164/Leu-194 (PubMed:12144626, PubMed:11019917, PubMed:18325888). The sequence shown is that of allele CD1E*01
+Position 874 is associated with platelet-specific alloantigen HPA-3/BAK/LEK. HPA-3A/BAK(A)/LEK(A) has Ile-874 and HPA-3B/BAK(B)/LEK(B) has Ser-874. HPA-3B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP)
+The sequence shown is that of 6B3-1, 6B3-2 seems to differ in 17 positions and is probably an allele
+A two nucleotide mutation at the miRNA396c target site results in elevated transcript levels of GRF4, and the accumulation of GRF4 leads to enlarged cell size and increased cell number, which in turn results in enhanced grain weight and yield
+There are two alleles; gamma-I and gamma-II which differ by 5 residues
+Genetic variations in GABRA2 determine the genetic susceptibility to alcoholism [MIM:103780]
+Alleles B2 and B3 are shown, monogyne population from Brazil
+There are several alleles. The sequence shown is that of IMGT allele TRBV18*01
+The rat poly-Gln region is very limited in comparison to human ATXN1 and is not polymorphic
+Diversity in S-antigen is mainly due to polymorphism in the repetitive regions
+Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments (PubMed:15955084). The sequence shown corresponds to allele KAP4.8-v1 (PubMed:15955084)
+Variant Glu-237 has been found to be present in about 5.3% of a 1004 individuals population sample in Australia (PubMed:8817330)
+Genetic variations in MC4R define the body mass index quantitative trait locus 20 (BMIQ20) [MIM:618406]. MC4R loss-of-function variants are associated with higher body mass index, obesity, type 2 diabetes, and coronary artery disease. Gain-of-function variants have been reported to be associated with lower body mass index and resistance to obesity
+A stop polymorphism at position 238 may be associated with invasive aspergillosis following hematopoietic stem cell transplantation (PubMed:20807886). The risk is highest when the polymorphism is present in both donors and recipients [MIM:614079] (PubMed:20807886)
+There are several alleles. The sequence shown is that of IMGT allele IGLV6-57*01
+Eight alleles have been characterized (APOA-IV*0 to APOA-IV*7). APOA-IV*1 is the major allele (90%), APOA-IV*2 is also common (8%), the others are rare alleles
+Variant Lys-317 is typically present in extinct archaic humans, Neanderthals and Denisovans, as well as in other primates. It is rare in modern human population with a frequency of 0.03%. No homozygote is reported in the Genome Aggregation Database (gnomAD v2.1.1). The modern human variant Arg-317 is thought to lead to a greater neocortical neurogenesis compared to archaic human Lys-317, in particular in the frontal lobe. It is currently unknown if the presence of variant Lys-317 in modern humans is associated with a disease or has any effect on cognitive skills
+Seven non deleterious alleles are known: CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. The sequence shown corresponds to allele CYP21A2*1B. Deleterious alleles are mostly generated by recombinations between CYP21A2 and the pseudogene CYP21A1P through gene conversion. This process consists of recombination events that either delete CYP21A2 or transfer deleterious mutations from CYP21A1P to CYP21A2
+Three alleles are known: ADH1B*1 (ADH2*1) corresponding to variant beta-1, ADH1B*2 (ADH2*2) corresponding to variant beta-2, ADH1B*3 (ADH2*3) corresponding to variant beta-3. The sequence shown is that of allele ADH1B*2. The ADH1B*2 allele frequency in orientals is approximately 75%, whereas it is less than 5% in most Caucasian populations. The ADH1B*2 allele is associated with a lower risk of alcoholism. ADH1B variations have been associated with protection against alcohol dependence and alcohol-related aerodigestive tract cancer [MIM:103720]
+Variant present in the strains cv. Serrano Vera Cruz, allele pvr2(7), confers an increased resistance to potato virus Y (PVY) strains LYE84 and SON41 but sensitivity to tobacco etch virus (TEV) strains HAT and CAA10
+Variant present in the strains cv. PI195301, allele pvr2(8), confers an increased resistance to potato virus Y (PVY) strains LYE84 and SON41 but sensitivity to tobacco etch virus (TEV) strains HAT and CAA10
+Variant present in the strains cv. Chile de Arbol, allele pvr2(9), confers an increased resistance to potato virus Y (PVY) strains LYE84 and SON41 but sensitivity to tobacco etch virus (TEV) strains HAT and CAA10
+Variant present in the strains cv. Maroc 1 and LP1, allele pvr2(6), confers an increased resistance to potato virus Y (PVY) strains LYE84 and SON41 but sensitivity to tobacco etch virus (TEV) strains HAT and CAA10
+Variant present in the strains cv. Florida VR2, cv. Dempsey, cv. CDP06188 and cv. Chay Angolano, alleles pvr1-2 and pvr2(2), confers an increased resistance to potato virus Y (PVY) strain LYE84 and to tobacco etch virus (TEV) strains HAT and NW associated with impaired TEV VPg binding, but sensitivity to PVY strain SON41 and to TEV strains CAA10
+Variant present in the strains cv. HD-C69, cv. PI201234 and cv. Perennial, allele pvr2(3), is associated with an increased resistance to potato virus Y (PVY) strain LYE84 but susceptibility to PVY strain SON41 and to tobacco etch virus (TEV) strains HAT and CAA10
+Variant present in the strains cv. Yolo Y and cv. CDP06433, alleles pvr1-1 and pvr2(1), is associated with an increased resistance to potato virus Y (PVY) strain LYE84 but sensitivity to PVY strain SON41 and to tobacco etch virus (TEV) strains HAT and CAA10
+Variant present in the allele pvr1, haplotype I1, confers an increased resistance to tobacco etch virus (TEV) strains HAT and NW associated with impaired TEV VPg binding and inability to bind 7-methylguanosine-containing mRNA cap
+Variant present in the strain cv. SC81, allele pvr2(5), is associated with an increased resistance to potato virus Y (PVY) strains LYE84 and SON41 but sensitivity to tobacco etch virus (TEV) strains HAT and CAA10
+Genetic variations in LIPC define the high density lipoprotein cholesterol level quantitative trait locus 12 (HDLCQ12) [MIM:612797]
+Genetic variations in LIPC are associated with susceptibility to type 2 diabetes mellitus (T2D) [MIM:125853]
+The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to two nonsense variants creating stop codons at positions 16 and 168 in the reference genome. Both nonsense variants would abolish catalytic activity. The sequence shown in this entry is that of the double variant p.[Ter16Ser;Ter168Gln]. The variant p.Ter16Ser may be extremely rare and is not reported in the Genome Aggregation Database (gnomAD v3.1.2). The variant p.Ter168Gln is common in the human population with a frequency of 75%. Although the existence of the double variant p.[Ter16Ser;Ter168Gln] has not been proven in normal tissues, several lines of evidence support its existence in certain tumors or cell lines. It has been cloned from a colon tumor and has also been detected at the mRNA level in H4 neuroglioma cell line, as well as in the neuroblastoma cell line SH-SY5Y (PubMed:11397015, PubMed:19011241). In H4 and SH-SY5Y cells, its mRNA level can be up-regulated by ceramides. In H4 cells, the silencing of NAT8B double variant often leads to cell death, suggesting a function in these cells (PubMed:19011241). Functional assays show that NAT8B possesses robust N-acetyltransferase activity in a similar, but not identical way to its paralog NAT8 (PubMed:19011241, PubMed:24556617)
+There are several alleles. The sequence shown is that of IMGT allele IGLV3-21*02
+The cultivar Koshihikari contains a non-synonymous substitution of Ala-331 to Thr-331, which confers strongly reduced kinase activity of HD16, and results in decreased photoperiod sensitivity compared to the cultivar Nipponbare
+The number of repeats varies between strains
+Genetic variations in PIR might have a sex-specific influence on bone mineral density differences in some populations, as reported by PubMed:19766747. In a cohort of 4000 Chinese, a significant statistical association has been identified, in women but not in men, between the intronic SNP rs5935970 and lumbar spine bone mineral density, and between a haplotype composed of three SNPs with bone mineral density at other sites
+There are several alleles. The sequence shown is that of IMGT allele TRAV18*01
+The allele, LMP7k/LMP7s/LMPf/LMP7r/LMPcas4/LMPg7 found in strains NMRI, B10.BR, SJL, A.CA, B10.RIII, B10.cas4 and NOD may be post-translationally modified. Allele LMP7q is found in strain DBA/1J
+Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments
+The sequence varies across Plasmodium strains (PubMed:2090943). All variants share conserved N- and C-terminal regions; however, they belong to two allelic families, represented by 3D7 strain and FC27 strain sequences respectively, distinguished by tandem repeats and dimorphic flanking sequences within the central region of the protein (PubMed:2090943)
+The following alleles of DRB4 are known: DRB4*01:01, DRB4*01:02, DRB4*01:03, DRB4*01:04, DRB4*01:05, DRB4*01:06 and DRB4*01:07. The sequence shown is that of DRB4*01:03
+Genetic variants in MFSD12 cause skin pigmentation variation (PubMed:29025994, PubMed:30664655). Skin pigmentation is among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification (PubMed:29025994, PubMed:30664655). In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator (PubMed:29025994, PubMed:30664655). His-192 is commonly found in East Asians and Native Americans only, and significantly correlates with lower solar radiation intensity in East Asia (PubMed:30664655)
+There are several alleles. The sequence shown is that of IMGT allele IGLV3-12*02
+There are several alleles. The sequence shown is that of IMGT allele IGKV4-1*01
+Genetic variations in FFAR4 define the body mass index quantitative trait locus 10 (BMIQ10) [MIM:607514]. Variance in body mass index is a susceptibility factor for obesity
+There are several alleles. The sequence shown is that of IMGT allele IGKV1D-39*01
+Allelic variations in TYRP1 may be associated with brown (allele chocolate) or cinnamon (allele cinnamon) coat color in domestic cats
+There are several alleles. The sequence shown is that of IMGT allele TRBV25-1*01
+Copy-number variation of UGT2B17 defines the bone mineral density quantitative trait locus 12 (BMND12) [MIM:612560]. Variance in bone mineral density is a susceptibility factor for osteoporotic fractures
+Maps to a tandemly repeated region on chromosome Yp11; additionally at least one copy is reported originating from Yq. The gene is thought to be present with an inter-individual variation in copy number and between 20 and 60 copies per Y chromosome are expected. 35 tandemly repeated gene copies on Yp11 originating from one individual have been reported (PubMed:12815422)
+The protein-coding sequence is highly variable and 7 major alleles have been identified, numbered from allele A to G. Alleles A, B, C, F, and G are highly sensitive to sulcatone, while alleles D and E are less sensitive to sulcatone odor. The sequence displayed is that of allele A
+There are several alleles. The sequence shown is that of IMGT allele TRBV4-3*01
+There are several alleles. The sequence shown is that of IMGT allele IGHV8-51-1*02
+Genetic variations in KLK1 are the cause of a decreased in urinary kallikrein activity [MIM:615953]. The His-77 mutation dramatically reduces the activity of the enzyme in the urine. There is a 50 to 60% reduction in urinary kallikrein activity in His-77 individuals, but renal and hormonal adaptation to dietary changes in sodium and potassium are unaffected. However, in studies of brachial artery function, His-77 individuals consistently exhibited an increase in wall shear stress and a paradoxical reduction in artery diameter and lumen compared to Arg-77 individuals. This partial genetic deficiency in kallikrein activity is associated with a form of arterial dysfunction involving inappropriate inward remodeling of the brachial artery despite a chronic increase in shear stress
+The protein is absent in 14% of the human population
+A genetic variation in NCR3 is associated with mild malaria susceptibility [MIM:609148]
+There are several alleles. The sequence shown is that of IMGT allele TRAV17*01
+Strain C3H/HeJ mice harbor a point mutation in Dock8 which results in impaired dendritic cell migration. The mutation is not observed in strains CBA/J, C3H/HeOuJ or C3HeB/FeJ
+There seems to be at least 8 variants: 1.0101 (PubMed:3181153), 1.0102/SA2S1 (PubMed:8093997), 1.0103/SA2S2 (PubMed:8093997), 1.0104/SIN1 (PubMed:8647131), 1.0105/SIN2 (PubMed:8647131), 1.0106/SIN3 (PubMed:8647131), 1.0107/SIN4 (PubMed:8647131), and 1.0108/SIN5 (PubMed:8647131)
+There are several alleles. The sequence shown is that of IMGT allele TRAV27*03
+Genetic variation in TAS2R16 influences sensitivity to beta-glucopyranoside tasting (BGLPT) [MIM:617956]. Variant Asn-172 results in greater receptor activation in response to bitter beta-glucopyranoside compounds including salicin, arbutin and amygdalin compared to Lys-172 (PubMed:16051168). Variant Lys-172 may influence risk of alcohol dependence (PubMed:16385453)
+Arg-224 is found in the MHC 7.1 haplotype (HLA-A3,B7,DR15) population
+There are several alleles. The sequence shown is that of IMGT allele IGKV3D-20*01
+At least 5 allelic variants of SFTPA1 are known: 6A, 6A(2), 6A(3), 6A(4) and 6A(5). The sequence shown is that of allele 6A(3)
+There are several alleles. The sequence shown is that of IMGT allele IGHV5-51*01
+Genetic variants in TYRP1 define the skin/hair/eye pigmentation variation locus 11 (SHEP11) [MIM:612271] and are responsible for variability in hair color linked to chromosome 9p23 in Melanesians. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification
+There are 2 allelic forms (A1 and A2) varying in two positions. The isoform shown here is A1
+A functional SNP in the promoter of SERPINH1 is associated in African Americans with an increased risk for preterm premature rupture of membranes (PPROM) [MIM:610504]. PPROM is defined as rupture of the membranes before 37 weeks of gestation. SERPINH1 with the -656 T allele displays significantly reduced promoter activity compared to the major -656 C allele. Prematurity is correlated with an increased frequency of the -656 T allele
+The poly-Asp region of ASPN is polymorphic and ranges at least from 11 to 17 Asp (PubMed:11152692)
+The sequence shown corresponds to the reference genome sequence and is likely to represent the minor allele, whereas most publications refer to the longer sequence containing variant Arg-22 ins. Insertion of the additional arginine in variant Arg-22 ins creates an N-terminal basic cluster of four arginines, all of which appear to be important for the full functionality of the protein, including bactericidal and antifungal activities as well as binding to glycosaminoglycans, pspA, LPS, lysozyme and DNA
+Genetic variations in CYP2D6 are the cause of poor drug metabolism CYP2D6-related [MIM:608902]. The CYP2D6 gene is highly polymorphic. CYP2D6 activity ranges widely within a population comprising ultrarapid (UM), extensive (EM), intermediate (IM) and poor (PM) metabolizer phenotypes. UM and PM are those most at risk for treatment failure or dose-dependent drug toxicity, respectively. Of the Caucasian populations of Europe and North America, 5%-10% are of the PM phenotype and are unable to metabolize the antihypersensitive drug debrisoquine and numerous other drugs. Different alleles are known, including CYP2D6*1 (PubMed:15768052), CYP2D6*2 (PubMed:25469868), CYP2D6*6B/6C (PubMed:7868129), CYP2D6*7 also known CYP2D6E (PubMed:7845481), CYP2D6*9 also known CYP2D6C (PubMed:1844820), CYP2D6*10 also known CYP2D6J (PubMed:8287064, PubMed:25469868), CYP2D6*12 (PubMed:8655150), CYP2D6*14 (PubMed:10064570), CYP2D6*17 also known CYP2D6Z (PubMed:8971426), CYP2D6*41B (PubMed:15768052), CYP2D6*45A (PubMed:15768052), CYP2D6*45B (PubMed:15768052), CYP2D6*46 (PubMed:15768052), CYP2D6*87 (PubMed:25469868), CYP2D6*88 (PubMed:25469868), CYP2D6*89 (PubMed:25469868), CYP2D6*90 (PubMed:25469868), CYP2D6*91 (PubMed:25469868), CYP2D6*93 (PubMed:25469868), C CYP2D6*94 (PubMed:25469868), CYP2D6*97 (PubMed:25469868) and CYP2D6*98 (PubMed:25469868). Isozymes CYP2D6.45 (Lys-155, Cys-296 and Thr-486) and CYP2D6.46 (His-26, Lys-155, Cys-296 and Thr-486) are functional (PubMed:15768052). The sequence shown is that of isozyme CYP2D6.1 corresponding to allele CYP2D6*1
+Nlrp1a gene is extremely polymorphic. 5 alleles have been described: 1 (AC D9I2F9), 2 (AC D9I2G3), 3 (AC D9I2H0), 4 (this entry) and 5 (AC D9I2G4)
+Variability among CYP2B6 alleles may account for differential metabolism of endogenous steroids and endocannabinoids among individuals. For 16-alpha hydroxylation of testosterone, Vmax/Km values between alleles decrease in the following order: 2B6*1 > 2B6*6 > 2B6*9 > 2B7*4. For 16-beta hydroxylation of testosterone, 2B6*6 has the highest catalytic efficiency. For anandamide metabolism, 2B6*6 and 2B6*9 alleles show significantly lower rates of epoxidation (PubMed:21289075). Genetic variations in CYP2B6 are responsible for poor metabolism of efavirenz and, therefore, susceptibility to efavirenz toxicity in the central nervous system [MIM:614546]. Efavirenz is a non-nucleoside reverse transcriptase inhibitor frequently prescribed with 2 nucleoside reverse transcriptase inhibitors as initial therapy for human immunodeficiency virus (HIV) infection. Up to half of patients treated with efavirenz, experience side effects in the central nervous system, including dizziness, insomnia, impaired concentration, somnolence, and abnormal dreams. Severe depression, aggressive behavior, and paranoid or manic reactions may also occur, depending on efavirenz concentration in the plasma. Patients homozygous for 2B6*6 have significantly higher plasma efavirenz levels when compared to 2B6*6 heterozygous ones (PubMed:15622315, PubMed:15194512, PubMed:20639527)
+Expressed at very low levels in most inbred strains with high levels detected only in strains BALB/c and DBA/2. Expressed at high levels in a number of wild mouse-derived strains
+A single amino acid substitution of Ser-122 in cultivar Bea's Choice (AC I3PLQ6) to Tyr-122 in cultivar Marianne (AC A0A2S1WBY6) abolishes the 3-O-acetyl-4'-O-demethylpapaveroxine 4'-O-methyltransferase activity
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-43D*01
+A single nucleotide deletion in the N-terminal region of the protein leads to production of a shorter protein starting at Met-47 which matches the reference genome (GRCh38/hg38) but is likely to be the minor allele
+There is a polymorphism within a series of imperfect repeats encoding the sequence E-Q-[AV]-Q. Insertions or deletions of 12 nucleotides have given rise to three forms characterized by three (129), four (C57BL/6), or five (M.castaneus) copies of the repeat unit
+There are two major alleles; Thy-1.1 (CD90.1) and Thy-1.2 (CD90.2)
+Product of a polymorphic gene which also produces a longer 410-residue protein due to a polymorphism which affects Met-1, resulting in a longer protein starting at an upstream Met
+Genetic variations in SCARB1 define the high density lipoprotein cholesterol level quantitative trait locus 6 (HDLCQ16) [MIM:610762]
+There are several alleles. The sequence shown is that of IMGT allele IGKV1-12*01 and IMGT allele IGKV1-12*02
+The variable number of tandem repeats (VNTR) region, an array of serine- and threonine-rich tandem repeats, is encoded by a single exon (exon 2) which is highly polymorphic
+Mutations in CHCHD2 are rare, and might vary by ethnic origin
+There are several alleles. The sequence shown is that of IMGT allele IGHV4-59*01
+Several forms of kgp with differences at the C-terminus exist in different P.gingivalis strains
+There are several alleles. The sequence shown is that of IMGT allele IGKV1-17*01
+The poly-Leu region of NOTCH4 (in the signal peptide) is polymorphic and the number of Leu varies in the population (from 6 to 12)
+There are several alleles. The sequence shown is that of IMGT allele TRAV21*01
+The repeat A-S-P-A-[GLQR] is polymorphic and the number of copies varies between 12 to 14
+There are several alleles. The sequence shown is that of IMGT allele IGHV4-4*02
+There are several alleles. The sequence shown is that of IMGT allele IGKV1-8*01
+Three alleles are known: TASK-5A, TASK-5B and TASK-5C. The sequence shown is that of allele TASK-5B
+There are several alleles. The sequence shown is that of IMGT allele IGHV6-1*01
+The Arg-7 polymorphism may be associated with progressive supranuclear palsy
+Genetic variations in LGR4 define the bone mineral density quantitative trait locus 17 (BMND17) [MIM:615311]. Variance in bone mineral density influences bone mass, contributes to size determination in the general population, and is a susceptibility factor for osteoporotic fractures
+There are several alleles. The sequence shown is that of IMGT allele IGLV3-19*01
+Three alleles exist; alpha-2A, alpha-2B (shown here) and alpha-2C (PubMed:7627809). Allele alpha-2B is the predominant allele while allele alpha-2A is less predominant and alpha-2C only a minor allelic variant
+Nlrp1a gene is extremely polymorphic. 5 alleles have been described: 1 (AC D9I2F9), 2 (AC D9I2G3), 3 (AC D9I2H0), 4 (AC D9I2G1) and 5 (this entry)
+Responsible for the Landsteiner-Wiener blood group system [MIM:111250]. The molecular basis of the LW(A)=LW5/LW(B)=LW7 blood group antigens is a single variation in position 100; Gln-100 corresponds to LW(A) and Arg-100 to LW(B)
+There are several alleles. The sequence shown is that of IMGT allele TRDV2*03
+A stop codon at position Arg-172 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in non-Africans than in African-Americans
+The poly-Ala region of PABPN1 is polymorphic (6-7 repeats) in the population and is expanded to 8-13 repeats in OPMD patients. Compound heterozygotes for (GCG)9 mutation and a (GCG)7 allele result in earlier onset and more severe clinical manifestations of the disease
+Genetic variants in ASIP define the skin/hair/eye pigmentation variation locus 9 (SHEP9) [MIM:611742]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair
+The poly-His region between amino acids 231-239 of ZIC2 is polymorphic and the number of His can vary from 8 to 12
+There seems to be three variants of IFN-tau 2: A (shown here), B and C
+e/ebony expression levels vary across D.melanogaster population in the wild, affecting both pigmentation and chain hydrocarbon length profiles
+There are several alleles. The sequence shown is that of IMGT allele TRAV16*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV6-6*02
+A polymorphism 1.2 kb upstream of the MAOA coding sequences consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism affect transcriptional activity of the MAOA gene promoter. Alleles with 3.5 or 4 copies of the repeat sequence are transcribed 2 to 10 times more efficiently than those with 3 or 5 copies of the repeat
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-16*02
+There are several alleles. The sequence shown is that of IMGT allele IGHV2-70D*04
+The Gly-16 allele is overrepresented in individuals affected by nocturnal asthma as compared to controls, and appears to be an important genetic factor in the expression of this asthmatic phenotype
+There are two alleles. The sequence shown is that of beta-S
+The polymorphism in position 95 is responsible for hair length variation. The long-haired phenotype is associated with Phe-95 or with the insertion in position 50
+Genetic variations in PIGG define the Emm blood group system [MIM:619812]
+Allelic variations in FGF5 may be associated with long-haired phenotype in domestic cats. The trait is autosomal recessive
+According to some authors, 4 of the identified SERPIN11 transcripts contained coding sequences that could be distinguished by different combinations of single nucleotide polymorphisms (designated SERPINB11a, SERPINB11b, SERPINB11c, and SERPINB11d), and one contained a nonsense mutation introducing a premature stop codon in position 90 identified in the official genome sequence (SERPINB11f) (PubMed:17562709). The sequence displayed here corresponds to SERPINB11a
+There are several alleles. The sequence shown is that of IMGT allele IGLV2-14*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV40*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV8-2*01
+The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a missense variant at position 174, p.Arg174Trp, in the reference genome, that results in the loss of response to short chain fatty acids, including propionate. The sequence shown in this entry is that of variant p.Trp174Arg. This variant is activated by propionate and has a frequency of about 15% in the human population according to the Genome Aggregation Database (gnomAD v2.1.1)
+Variation in, or absence of, PINB is associated with variation in grain texture
+The cultivar Landsberg erecta (cv. Ler) derives from cv. Landsberg (cv. La-0) in which ERECTA is mutated at Ile-750 (variant er)
+Ly-6I.2 and Ly-6I.1 are expressed in bone marrow of strain C57BL/6 and strain NOD, respectively
+Does not appear to be polymorphic
+An allelic variation in MLPH, resulting in a severely truncated protein, has been shown to be associated with the dilute coat color phenotype. This trait is autosomal recessive
+The poly-Gln tract is polymorphic and the number of Gln varies from 12 to 14 (PubMed:11404004). The size of the poly-Gln region may influence the age at onset of spinocerebellar ataxia type 2 (SCA2) (PubMed:10915763)
+A change from seven to eight ATG trinucleotide repeats, resulting in an additional N-terminal methionine, has been found in a patient with non-insulin-dependent diabetes mellitus (NIDDM)
+Two forms exist; alpha-4a (shown here) and alpha-4b (PubMed:9335434). They seem to be equally abundant (PubMed:9335434)
+Variation in PHF11 seems to be associated with propensity to childhood atopic dermatitis and asthma
+Higher levels occur in the proximal convoluted tubule of strain SHR than strain Wistar Kyoto
+Genetic variations in BHLHE41 are associated with the familial natural short sleep 1 (FNSS1) phenotype, an autosomal dominant trait [MIM:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group
+Variants Arg-187 and Arg-223 do not influence the pathogenesis of non-autoimmune diabetes
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-24*01
+Constitutes approximately 10% of the total major urinary protein composition in the urine of C57BL/6 males but is barely detectable in the urine of BALB/c males
+The sequence shown is that of allotype C8B A
+Several isoforms exist due to polymorphism
+Genetic variants in CES1 are associated with clinically significant alterations in pharmacokinetics and drug response of carboxylesterase 1 substrates [MIM:618057]
+A single amino acid substitution of Arg-197 in cultivar Sultanina (AC F6I457) to Leu-197 in a Sultanina mutant cultivar (AC A0A217EJJ0) is responsible for the production of seedless grape
+There are several alleles. The sequence shown is that of IMGT allele TRAV2*01
+Genetic variants in MFSD12 cause skin/hair pigmentation variations and are the cause of mushroom coat color in shetland ponies
+The Glu-10 variant in the Lec15.1/B4-2-1 cell line causes dramatic reduction of DPM2
+A number of amino acid polymorphism sites that influence scrapie susceptibility and transmission have been described. These are alanine to threonine or valine at codon 136, arginine to histidine at codon 154, and arginine to glutamine, histidine or lysine at codon 171. A number of allelic variants have been described based on the amino acids found at these three positions: VRQ, ARQ, AHQ, TRQ, ARK, ARR and ARH
+Position 534 is associated with platelet-specific alloantigen HPA-5 (Br). HPA-5B/Br(a) has Lys-534 and HPA-5A/Br(b) has Glu-534. HPA-5B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP). The Lys-534-Glu polymorphism may play a role in coronary artery disease (CAD)
+All variants have fusogenic properties
+There are several alleles. The sequence shown is that of IMGT allele IGLV10-54*02
+Homozygosity for KL-VS allele is associated with decreased longevity and increased cardiovascular disease risk
+A variation at a single nucleotide base, which results in an erroneous stop codon and affects Gln-20, triggers non-sense mediated RNA decay, such that no HTR2B-receptor protein is expressed. It is associated with impulsive behavior and co-segregates with disorders characterized by impulsivity. However, the presence of this variant is not in itself sufficient to cause impulsive behavior: male sex, testosterone level, alcohol and stress exposure are other factors playing important roles
+There are several alleles. The sequence shown is that of IMGT allele IGHV4-34*01
+There are several alleles. The sequence shown is that of IMGT allele IGLC3*03
+Strains Kisumu and Kisumu2 are susceptible to insecticides while strain YAO is resistant. Insensitivity to insecticides results from a loss of sensitivity of acetylcholinesterase to organophosphates and carbamates and is due to a variant at position 280
+Genetic variation in EDAR is associated with variations in head hair thickness and defines the hair morphology locus 1 (HRM1) [MIM:612630]. Besides skin color and facial features, hair morphology is one of the most distinctive traits among human populations, and classical classification of human population is based on such visible traits
+There are several alleles. The sequence shown is that of IMGT allele IGHV2-26*01
+A variant structure of albumin could lead to increased binding of zinc resulting in an asymptomatic augmentation of zinc concentration in the blood. The sequence shown is that of variant albumin A
+A stop codon at position Arg-192 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in non-Africans than in African-Americans
+Alpha T3 may be an allele of alpha T4
+There are several alleles. The sequence shown is that of IMGT allele TRAV4*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV2*01
+Genetic variations in ANGPTL4 are associated with low plasma triglyceride levels and define the plasma triglyceride level quantitative trait locus (TGQTL) [MIM:615881]
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-13*05
+There are several alleles. The sequence shown is that of IMGT allele IGLV5-48*02
+There are several alleles. The sequence shown is that of IMGT allele TRBV5-4*01
+Heterozygotic variants Gly-313 and Arg-720 are associated with atopy, an immunological condition that can lead to clinical symptoms such as allergic rhinitis, sinusitis, asthma and eczema
+There are several alleles. The sequence shown is that of IMGT allele IGLV3-25*03
+There are several alleles. The sequence shown is that of IMGT allele IGKV6-21*01
+There are several alleles. The sequence shown is that of IMGT allele IGLV4-3*01
+The domestic dog exhibits greater diversity in body size than any other terrestrial vertebrate. A major quantitative trait locus (QTL) on chromosome 15 influences size variation within a single breed. In particular, a single-nucleotide polymorphism haplotype in IGF1 (synonymous SNP in exon 3) is common to all small breeds (less than 9 kg) and nearly absent from giant breeds (more than 30 kg), suggesting that the same causal sequence variant is a major contributor to body size in all small dogs
+The polymorphisms in strains DBA/2J and SJL/J may be associated with severity of clinical symptoms of experimental allergic encephalomyelitis, an animal model of multiple sclerosis, and susceptibility to the monophasic remitting/nonrelapsing form of the disease
+There are several alleles. The sequence shown is that of IMGT allele IGKV3-7*04
+ACP1 is genetically polymorphic. Three common alleles are known in Caucasians: ACP1*A, ACP1*B and ACP1*C. They give rise to six different phenotypes. Each allele appears to encode two electrophoretically different isozymes, F and S, which are produced in allele-specific ratios (PubMed:1939112). The sequence shown is that of allele ACP1*B and allele ACP1*C
+There are several alleles. The sequence shown is that of IMGT allele TRBV20-1*01
+Polymorphisms in NAT2 are the cause of slow and fast acetylation phenotypes [MIM:243400] and influence drug therapy response and susceptibility to chemical toxicity or carcinogenicity
+The number of trinucleotide (CTG) repeat varies among different alleles leading to insertion of Leu residues in the signal peptide. The allele with 5 leucines (as shown in the reference entry) is known as the Mannheim allele. Diabetic patients with the CNDP1 Mannheim allele are less susceptible for nephropathy
+The poly-Glu region of KCNN1 is polymorphic and the number of Glu varies between strains (from 10 to 12). The repeat with 10 Glu residues (shown here) is found in BALB/c, DBA/2J, 129/SvJ, A/J, C3H/HeJ, BALB/cJ, BXD-31, SM/J, ST/BJ, FVB/NJ, NZB/B1NJ, CBA/J and CAST/Ei
+Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments (PubMed:15955084)
+A rare polymorphic frameshift in position 451 produces a protein of 545 residues
+Genetic variations in TLR2 are associated with susceptibility to leprosy [MIM:246300]. Leprosy is a chronic disease associated with depressed cellular (but not humoral) immunity, the bacterium requires a lower temperature than 37 degrees Celsius and thrives particularly in peripheral Schwann cells and macrophages. The Trp-677 polymorphism in the intracellular domain of TLR2 has a role in susceptibility to lepromatous leprosy. Wild-type TLR2 mediates CD14-enhanced Mycobacterium leprae-dependent activation of NFKB1, but TLR2 containing the Trp-677 polymorphism did not. The impaired function of the Trp-677 polymorphism provides a molecular mechanism for the poor cellular immune response associated with lepromatous leprosy
+There are several alleles. The sequence shown is that of IMGT allele IGLV7-46*02
+The complement component C4 is the most polymorphic protein of the complement system. It is the product of 2 closely linked and highly homologous genes, C4A and C4B. Once polymorphic variation is discounted, the 2 isotypes differ by only 4 amino acids at positions 1120-1125: PCPVLD for C4A and LSPVIH for C4B. The 2 isotypes bear several antigenic determinants defining Chido/Rodgers blood group system [MIM:614374]. Rodgers determinants are generally associated with C4A allotypes, and Chido with C4B. Variations at these loci involve not only nucleotide polymorphisms, but also gene number and gene size. The second copy of C4B gene present in some individuals has been called C4B_2 by the HUGO Gene Nomenclature Committee (HGNC). Some individuals may lack either C4A, or C4B gene. Partial deficiency of C4A or C4B is the most commonly inherited immune deficiency known in humans with a combined frequency over 31% in the normal Caucasian population (PubMed:11367523). Common copy-number variants of C4A and C4B affecting expression of complement component C4 in the brain have been associated with schizophrenia risk (PubMed:26814963)
+There are several alleles. The sequence shown is that of IMGT allele TRDV1*01
+There seem to be two alleles of this protein
+Variations in cort gene cortex directly affect wing pigmentation patterning and are the cause of the darkening of the wing in the f. carbonaria strain. This phenomenon, known as industrial melanism, is a classroom example of evolution: during industrial revolution, the common pale B.betularia strain (f. typica) was replaced by a previously unknown black strain (f. carbonaria), driven by the interaction between bird predation and coal pollution. The variation is caused by insertion of a transposable element into the first intron of cort gene, which occured around 1819, in the early years of the industrial revolution
+The sequence varies across Plasmodium strains (PubMed:2000383). All variants share conserved N- and C-terminal regions; however, they belong to two allelic families, represented by 3D7 strain and FC27 strain sequences respectively, distinguished by tandem repeats and dimorphic flanking sequences within the central region of the protein (PubMed:2000383)
+Strain SLAB is susceptible to insecticides while strain SR is resistant. Insensitivity to insecticides results from a loss of sensitivity of acetylcholinesterase to organophosphates and carbamates and is due to a variant at position 247
+Alpha T4 may be an allele of alpha T3
+There are several alleles. The sequence shown is that of IMGT allele IGLV2-8*01
+The sequence shown is that of IMGT allele IGHJ1*01
+Variants in NPAS2 show a susceptibility to seasonal affective disorder (SAD) [MIM:608516]. SAD is a depressive condition resulting from seasonal changes, and with diurnal preference
+There are several alleles. The sequence shown is that of IMGT allele TRBV19*01
+The number as well as the precise structure of the DAZ proteins probably differs within the population
+There are several alleles. The sequence shown is that of IMGT allele IGKV1D-12*02
+Numerous polymorphisms have been identified in various strains, predominantly at positions 49 and 71 (PubMed:19845599). The sequence shown here is that of red jungle fowl (PubMed:15592404)
+Variations in EGLN1 are associated with adaptation to high altitude (PubMed:20838600, PubMed:20466884, PubMed:24711448, PubMed:25129147). High-altitude hypoxia (reduced inspired oxygen tension due to decreased barometric pressure) exerts severe physiological stress on the human body and leads to an elevation of hematocrit levels and an increased number of erythrocytes (polycythemia) in non-adapted individuals. Genetic variations in EGLN1 contribute to adaptation to high altitute by maintaining hematocrit levels comparable to those for populations living at sea level and are present in two high-altitude regions where humans have lived for millennia, the Andean Altiplano and the Tibetan Plateau (PubMed:20838600, PubMed:20466884). Variants Glu-4 and Ser-127, which are frequently associated together and are present in the majority of Tibetan populations, participate in adaptation to high altitude (PubMed:24711448, PubMed:25129147). Molecular mechanisms explaining this adaptation are however unclear. According to a report, variants Glu-4 and Ser-127 lead to decreased interaction with PTGES3 and subsequent decrease of HIF alpha proteins degradation (PubMed:24711448). According to a second report, Glu-4 and Ser-127 haplotype enhances the catalytic activity under hypoxic conditions, promoting increased HIF alpha proteins degradation, thereby abrogating hypoxia-induced and HIF alpha-mediated augmentation of erythropoiesis and protecting Tibetans from polycythemia at high altitude (PubMed:25129147)
+Allele B is shown, monogyne population from Argentina
+Variation of PPARGC1B may contribute to the pathogenesis of obesity, with a widespread Ala-203 allele being a risk factor for the development of this common disorders
+Sd-1 is the major semidwarfing allele extensively used in modern rice cultivars
+There are two major electrophoretic isotypes. The sequence of the ESD*1 variant is shown (PubMed:12721789, PubMed:7907313)
+The copy number of the CCL3L1 gene varies among individuals; most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than 6 copies
+Nlrp1a gene is extremely polymorphic. 5 alleles have been described: 1 (AC D9I2F9), 2 (this entry), 3 (AC D9I2H0), 4 (AC D9I2G1) and 5 (AC D9I2G4)
+Expansion of a polymorphic CGG repeat within the 5'-UTR of FRA10AC1 results in expression of the folate-sensitive fragile site FRA10A. The number of the CGG repeats normally varies in the population from 8 to 14. In contrast, individuals cytogenetically expressing the fragile site have at least 200 CGG repeats (PubMed:15203205). No distinct phenotype has been associated with expression of FRA10A. Nevertheless, some studies have proposed that this fragile site expression might be associated with intellectual disability, tumorigenesis, or neurological disorders. However, these associations can be attributed to ascertainment bias
+The sequence shown is that of variant B, the most common variant
+The most polymorphic of the mammalian genome. Polymorphic residues encode for alpha-1 and alpha-2 domains of the peptide-binding cleft, where they contribute to variations in peptide binding and TCR recognition among different alleles. The human population is estimated to have millions of HLA-B alleles. But only 17 common HLA-A alleles are considered core alleles, representing all functionally significant variation (polymorphism) in alpha-1 and alpha-2 domains. These are: B*07:02; B*08:01; B*13:02; B*15:01; B*18:01; B*27:05; B*35:01; B*37:01; B*38:01; B*40:01; B*44:02; B*45:01; B*51:01; B*54:01; B*57:01 and B*73:01. Among these, B*07:02; B*15:01; B*18:01; B*37:01; B*51:01; B*54:01; B*57:01 and B*73:01, were likely passed by introgression from archaic to modern humans. Functional alleles of more recent origin (non-core) were derived by recombination (PubMed:28650991). The sequence shown is that of B*07:02. The sequences of core alleles and common representative alleles of serologically distinct allele groups are described as variants of B*07:02
+C5 variants are responsible for poor response to eculizumab [MIM:615749]. Eculizumab is a monoclonal antibody highly effective in reducing intravascular hemolysis in patients with paroxysmal nocturnal hemoglobinuria. It specifically binds to the terminal complement protein C5, inhibits its cleavage into C5a and C5b, and prevents the formations of the cytolytic complement pore (PubMed:24521109)
+Position 59 is associated with platelet-specific alloantigen HPA-1 (ZW or PL(A)). HPA-1A/ZW(A)/PL(A1) has Leu-59 and HPA-1B/ZW(B)/PL(A2) has Pro-59. HPA-1A is involved in fetal-maternal alloimmune thromobocytopenia (FMAIT) as well as in neonatal alloimmune thrombocytopenia (NAIT)
+Position 169 is associated with platelet-specific alloantigen HPA-4 (PEN or YUK). HPA-4A/PEN(A)/YUK(A) has Arg-169 and HPA-4B/PEN(B)/YUK(B) has Gln-169. HPA-4B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP)
+Position 433 is associated with platelet-specific alloantigen MO. MO(-) has Pro-433 and MO(+) has Ala-433. MO(+) is involved in NAIT
+Position 515 is associated with platelet-specific alloantigen CA/TU. CA(-)/TU(-) has Arg-515 and CA(+)/TU(+) has Gln-515. CA(+) is involved in NAIT
+Position 662 is associated with platelet-specific alloantigen SR(A). SR(A)(-) has Arg-662 and SR(A)(+) has Cys-662
+Highly polymorphic. Polymorphic residues encode for the beta-1 domain of the peptide-binding cleft, where they contribute to variations in peptide binding and TCR recognition among different alleles. The sequence shown is that of DRB3*01:01. The sequences of common representative alleles of serologically distinct allele groups as defined in the catalog of common and well-documented HLA alleles, are described as variants of DRB3*01:01. The most frequent alleles in human population are DRB3*01:01 (DR52a), DRB3*02:02 (DR52b) and DRB3*03:01 (DR52c) (PubMed:23510415). Allele DRB3*01:01 belongs to an ancestral haplotype and is associated with autoimmune diseases that are linked to antigen presentation. It is found in more than 95% of the homozygous HPA-1B mothers that produce anti-HPA-1A antibodies, leading to neonatal alloimmune thrombocytopenia (NAIT) (PubMed:19494351, PubMed:19535639). In the context of hematological malignancy and T cell transplantation, alleles DRB3*01:01 and DRB3*02:02 present minor histocompatibility antigens derived respectively from host PTK2B and MR1 proteins, contributing to T cell-mediated graft-versus-leukemia effect and complete remission (PubMed:19706888). Allele DRB3*03:01 plays an important role in the outcome of HLA-identical sex-mismatched organ transplantation. Presents to T-helper cells a minor histocompatibility antigen encoded by the Y chromosome RPS4Y1 (VIKVNDTVQI), leading to the maturation of dendritic cells and expansion of antigen-specific cytotoxic T cells, ultimately triggering transplant rejection (PubMed:12944060)
+Genetic variations in IGF2 are associated with body mass index (BMI). The BMI is a statistical measurement which compares a person's weight and height
+DO is responsible for the Dombrock blood group system [MIM:616060]. The molecular basis of the Do(a)/Do(b) blood group antigen is a single variation in position 265; Asn-265 corresponds to Do(a) and Asp-265 to Do(b). It is also responsible for the antigens Gregory [Gy(a)], Holley [Hy] and Joseph [Jo(a)]
+Isolates from various regions of the US and Canada show some variations. PubMed:8105474 has sequenced LDH-B isolates called Florida 1A, 1B, 2A and 2B; Georgia 2A and 2B; Maine 2A; New Jersey 121A, 121B, 137A, 137B and 197B; Nova Scotia 1A, 1B, 2A and 2B
+There are two alleles, Ald3a1a and Ald3a1c. Ald3a1c codes for a low activity enzyme and is associated with extensive corneal clouding after exposure to ultraviolet light. Ald3a1a encodes the high activity enzyme
+The poly-Gln region from amino acids 235-262 of PCQAP is polymorphic. There are from 15 to 18 repeats in the Italian population
+In cv. Pinot Meunier, 1 of the 3 cultivars used for the sparkling wine Champagne, plants are genetically indistinguishable from Pinot noir in most cells, but their outer layer, the 'L1' epidermal cell layer, is different: cv. Pinot Meunier has a furry surface on its leaves whereas Pinot noir does not. This is due to the Ser-387 variant that is present only in cells of the L1 layer that causes this difference, demonstrating that GA inhibits flowering in grapewine
+Genetic variations in CHRNA5 have been associated with susceptibility to smoking-related behavioral traits and lung cancer, contributing to the smoking quantitative trait locus 3 (SQTL3) [MIM:612052]
+There are three allelic forms of FCGR3B: FCGR3B*01 (NA-1), FCGR3B*02 (HNA-1b, NA-2) (shown here) and SH. FCGR3B*01 and FCGR3B*02 are detectable with antibodies against the biallelic neutrophil-specific antigen system NA. The more active FCGR3B*01 allele has been associated with severe renal disease in certain systemic vasculitides
+The poly-Ala stretch is highly polymorphic
+There are several alleles. The sequence shown is that of IMGT allele TRBV5-1*01
+Genetic variations in SLC2A9 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 2 (UAQTL2) [MIM:612076] with pronounced sex-specific effects. The proportion of the variance of serum uric acid concentrations explained by genotypes is about 1.2% in men and 6% in women, and the percentage accounted for by expression levels is 3.5% in men and 15% in women (PubMed:18327257, PubMed:18327256, PubMed:18842065). Excess serum accumulation of uric acid can lead to the development of gout (PubMed:18327257, PubMed:18327256)
+There are 3 alleles in Podolian cattle; N, S and Y
+The Thr-161 variant may increase risk to develop pseudofolliculitis barbae (PFB) [MIM:612318]. PFB is a common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while it is rather rare and usually far less severe in Caucasian males
+There are several alleles. The sequence shown is that of IMGT allele IGLV7-43*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV16*01
+Addition of one nucleotide in cv. RLD induces a frameshift in position 245 leading to a protein 22 amino acids longer than the one shown here
+The GSTT1 gene is absent from 38% of the population. The presence or absence of the GSTT1 gene is coincident with the conjugator (GSST1+) and non-conjugator (GSTT1-) phenotypes respectively. The GSTT1+ phenotype can catalyze the glutathione conjugation of dichloromethane
+There are two alleles, IMGT allele TRBJ1-6*01 and TRBJ1-6*02, differing by a single nucleotide that does not change the amino acid sequence
+There are several alleles. The sequence shown is that of IMGT allele IGKV1D-42*02
+There are several alleles. The sequence shown is that of IMGT allele TRAV7*01
+There are several alleles. The sequence shown is that of IMGT allele IGHV2-70*01
+The variant Trp-248 (p.R248W) drastically reduces the enzymatic activity (PubMed:17671174, PubMed:18418598). The Del359-420 variant (p.Y359X) generates a truncated, enzymatically inactive protein (PubMed:17671174). The high prevalence of these polymorphic alleles results in a non-functional IDO2 enzyme in up to 50% of Caucasians (PubMed:18418598)
+Most naturally occurring variants in this protein are not associated with familial disposition to hereditary non-polyposis colorectal cancer (HNPCC) (PubMed:12517792). Furthermore, germline deletions involving this locus are not associated with clinically manifested colorectal tumors (PubMed:14623461)
+Variant Leu-41 variant is rare in European-Americans individuals but common in African-Americans individuals (40% of the African-American individuals studied carry at least one allele). Variant leu-41 is associated with decreased mortality in African-Americans with heart failure or cardiac ischemia
+Variant Arg-26 is associated with higher beta-endorphin affinity, lower blood cortisol levels and higher aggressive threat behavior
+This enzyme represents the most common of at least five alleles
+The region containing tandem repeats is polymorphic and the sequence shown here corresponds to the most common allele (PubMed:14534576). An association between hepatitis A virus (HAV) infection and atopic diseases has been observed in individuals with that allele (PubMed:14534576). Allelic variation does not affect HAV-infection rates in Caucasians, Asians and African Americans (PubMed:14534576)
+The number of repeats varies from 3 to 2 in one variant form which is equally present in breast cancer tumors
+The sequence shown is that of the allele FMO2*1. FMO2*2A is the major allele in the human population, however it encodes a truncated and catalytically inactive protein (PubMed:9804831). FMO2*2A occurs in essentially 100% of Caucasians and Asians (PubMed:9804831). FMO2*1 is present at a frequency of approximately 4% to 13% in the sample of population of African descent (PubMed:9804831, PubMed:11042094, PubMed:18794725)
+The variant in strain Capensis / YB4237 has additional DNA endonuclease (I-ScaI) activity promoting intron homing, which makes intron 2 of the COB gene highly mobile (PubMed:8670880). Introduction of 2 (Ala-355 and His-382) of its 4 variant residues into other strains is sufficient for acquisition of endonuclease activity of the corresponding mRNA maturases and for induction of intron mobility (PubMed:8670880)
+There are several alleles. The sequence shown is that of IMGT allele IGHV4-39*01
+The number of repeats is polymorphic and varies among different alleles. The sequence shown is that of allele L (long). There are allele M (medium) and allele S (short) which contain 12 and 9 approximate tandem repeats respectively
+Genetic variation in RNF207 may influence the duration of QT interval, a mesure of cardiac repolarization that depends on multiple environmental and genetic contributors. Prolonged or shortened QT intervals predisposes to ventricular arrhythmias and are a risk factor for sudden cardiac death
+The following alleles of F1 are known: F1C, F1B and F1A. The sequence shown is that of F1C
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-43*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV6-1*01
+Sequence variation may contribute to strain virulence (PubMed:8515772). Ameobapore A pore forming activity is higher in pathogenic strains such as HM-1:IMSS (PubMed:8515772)
+There are two common alleles of FUCA1; FUCA1*1; also known as Fu1; has Arg-281 and FUCA1*2; also known as Fu2; has Gln-281
+At least 6 alleles of DNASE1 are known: DNASE1*1 to DNASE1*6. The sequence shown is that of DNASE1*2
+There are several alleles. The sequence shown is that of IMGT allele IGLV2-23*01 and IMGT allele IGLV2-23*03
+A stop codon at position Ala-40 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in non-Africans than in African-Americans
+Variant present in the allele rym4, confers an increased resistance to barley yellow mosaic (BaYMV) and barley mild mosaic virus (BaMMV)
+Variant present in the allele rym5, confers an increased resistance to barley yellow mosaic (BaYMV), barley mild mosaic virus (BaMMV) and BaYMV-2
+Variant present in the strains cv. LA0411, cv. LA1420 and cv. LA0409, allele pot1(2), haplotypes 1 and 4, is associated with an increased resistance to potato virus Y (PVY) isolates LYE90 and N605 but not to PVY isolate SON41g and to tobacco etch virus (TEV) isolates CAA10
+There are several alleles. The sequence shown is that of IMGT allele IGLV11-55*02
+2 electrophoretic alleles are known: fast and slow. The isoform shown here is the slow form
+A single nucleotide deletion at position Phe-85 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene
+The Glu-274 variant occurs on approximately 4% of African-American PAH alleles. The enzyme activity of the variant protein is indistinguishable from that of the wild-type form
+Allele TLR4*B (Gly-299, Ile-399) is associated with a blunted response to inhaled LPS
+There are two variants, that are the most frequent in population and represented on the reference genome assembly (GRCh38/hg38). The first variant (rs979651598) has a stop codon instead of Ser-116, giving rise to truncated form. The variant Ser-116 is rare, except in populations from non-Finnish European. The second variant has a stop codon instead of Leu-186, giving rise to truncated form. The sequence shown is rare and is not represented on the reference genome assembly (GRCh38/hg38)
+There are 3 alleles. The sequence shown is that of alpha-3
+Allele B2, monogyne population from Brazil
+There are several alleles. The sequence shown is that of IMGT allele TRAV23/DV6*01
+There are several alleles. The sequence shown is that of IMGT allele IGLV1-47*02
+Genetic variations in IFNAR2 influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424]
+There are five defensin A forms, A1 (shown here) A2, A3, A4 and A5
+There are two alleles: C3S (C3 slow), the most common allele in all races and C3F (C3 fast), relatively frequent in Caucasians, less common in Black Americans, extremely rare in Orientals
+There are several alleles. The sequence shown is that of IMGT allele TRBV24-1*01
+Genetic variations in ABCG2 define the blood group Junior system (JR) [MIM:614490]. Individuals with Jr(a-) blood group lack the Jr(a) antigen on their red blood cells. These individuals may have anti-Jr(a) antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. Although the clinical significance of the Jr(a-) blood group has been controversial, severe fatal hemolytic disease of the newborn has been reported. The Jr(a-) phenotype has a higher frequency in individuals of Asian descent, compared to those of European descent. The Jr(a-) phenotype is inherited as an autosomal recessive trait
+Genetic variations in ABCG2 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 1 (UAQTL1) [MIM:138900]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia (PubMed:18834626, PubMed:19506252, PubMed:20368174)
+The sequence shown is that of variant A (MTA); variant B (MTB) differs in a single position
+Runs as a smaller protein in high passage extracts (passage 164) versus low passage (passage 14) that shares the same N-terminus. Sequencing has shown this smaller version to be due to an internal 54 bp deletion
+The polymorphism in strain SJL/J may be associated with severity of clinical symptoms of experimental allergic encephalomyelitis, an animal model of multiple sclerosis, and susceptibility to the monophasic remitting/nonrelapsing form of the disease
+3 allelic variants of cecropia moth lysozyme have been found. The sequence shown is that of lysozyme 1
+His-153 variation is a common polymorphism in African populations with a minor allele frequency of 9.2%, it eliminates sulfation at Tyr-154, with no consequences on digestive physiology
+CD44 is responsible for the Indian blood group system. The molecular basis of the In(A)=In1/In(B)=In2 blood group antigens is a single variation in position 46; In(B), the most frequent allele, has Arg-46
+There are two alleles; TYKY1 (shown here) and TYKY2
+The naturally-occurring CLOCK variant, missing exon 19 (deletion of AA 514-564) due to an A-->T nucleotide transversion in a splice donor site, forms a heterodimer with DNA, but fails to activate transcription. Homozygous CLOCK mutants have a circadian rhythm that is increased from 3 to 4 hours and usually the circadian rhythmicity is lost at constant darkness. Expression of CLOCK is also reduced. There also exists an alternative spliced CLOCK variant missing both exon 18 and exon 19 (AA 484-564)
+There are several alleles. The sequence shown is that of IMGT allele IGLV1-44*01
+There are several alleles. The sequence shown is that of IMGT allele IGKV1-6*01
+There are several alleles. The sequence shown is that of IMGT allele IGKV1D-17*01
+A genome-wide association analysis shows PRDM11 association with forced vital capacity (FVC), a spirometric measure of pulmonary function, that reflects lung volume and is used to diagnose and monitor lung diseases
+The sequence varies across Plasmodium strains (PubMed:8719253). All variants share conserved N- and C-terminal regions; however, they belong to two allelic families, represented by 3D7 strain and FC27 strain sequences respectively, distinguished by tandem repeats and dimorphic flanking sequences within the central region of the protein (PubMed:8719253)
+The variant Gly-231 which is found in about 2.2% of individual displays a 10-fold increased plasma EC-SOD content due to reduced heparin-binding affinity and thus the impairment of its binding ability to endothelial cell surface
+There are several alleles. The sequence shown is that of IMGT allele TRAV36/DV7*01
+The following alleles of MICB are known: MICB*001, MICB*002, MICB*003, MICB*004, MICB*005, MICB*006, MICB*007, MICB*008, MICB*009N, MICB*010, MICB*011, MICB*012, MICB*013, MICB*014, MICB*015, MICB*016, MICB*018, MICB*019, MICB*020, MICB*021N and MICB*022. MICB*009N and MICB*021N are null alleles which are not expressed. The three most common MICB alleles in the human population could be MICB*005, MICB*004, and MICB*002. The sequence shown is that of MICB*004
+Two alleles are known. The sequence shown is that of allele NKG2-C*01
+Ser-117 seems to only be found in persons of African origin. The allele frequency is 0.23 in African Americans. It was not found in Caucasians, Asians, Indo-Aryans, or Arabs. There seems to be no effect on the enzyme activity
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-11*06
+There are at least three alleles: H (sequence displayed) found in cv. H6, B found in cv. Serrana, and T found in cv. Texas Early White
+The poly-Gln region of ATXN3 is highly polymorphic (14 to 41 repeats) in the normal population and is expanded to about 55-82 repeats in spinocerebellar ataxia 3 (SCA3) patients (PubMed:7874163, PubMed:9274833)
+A single nucleotide deletion at position Phe-198 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene
+The number of repeats is polymorphic and varies from 1 to 4
+A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection [MIM:600263]
+The number of repeats in the tandem repeat domain is shown to vary between 53 and 55
+The protein is absent in 2.7% of the human population due to a loss-of-function polymorphism (rs41281112) that changes Arg-259 to a premature stop codon, leading to loss of the protein product (PubMed:23754956, PubMed:24334609). This polymorphism is associated with reduction of circulating vitamin B12 (PubMed:23754956, PubMed:24334609). The reduction of circulating vitamin B12 is caused by accumulation of citramalyl-CoA, an intermediate in the C5-dicarboxylate metabolic pathway that includes itaconate (PubMed:29056341). Itaconate acting as a vitamin B12-poisoning metabolite that inactivates the mitochondrial methylglutaconyl-CoA hydratase (AUH) enzyme (PubMed:29056341)
+Genetic variations in CDK6 may influence stature as a quantitative trait, contributing to the stature quantitative trait locus 11 (STQTL11) [MIM:612223]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits
+The cultivar Kitaake contains a non-synonymous substitution of the conserved residue Leu-710 to Pro-710, which confers a reduced photoperiod sensitivity (PS) response, early flowering, and allows the cultivar Kitaake to grow in high latitudes with long photoperiod conditions
+There are several alleles. The sequence shown is that of IMGT allele TRAV13-1*01
+Polymorphic differences between BALB/c and HBA alleles in the Ig-like V-type domain are the reason for distinct binding affinities for PtSer. The HBA2 allele binds PtSer approximately 50% less than BALB/c
+In H2b and H2s haplotype strains (e.g. C57BL/6, C57BL/10, C57L/J, LP/J, 129 and SJL/J mice), there is a deletion of 627 bp in the promoter and the first exon, leading to a failure to express the gene. In the haplotype H2q gene, an insertion in the second exon results in a frameshift and a premature stop codon, and in the haplotype H2f gene, a base substitution creates a stop codon in the first exon, leading to defective protein translation in the strains of these haplotypes
+In strain C57BL/6, a polymorphism generates a premature stop codon at position 764
+The 6 amino acid differences at positions 44, 45, 174, 227, 256 and 346 between GPR42 and FFAR3, are polymorphic in the human population. The frequency of the probable inactive allele of FFAR3, with a Trp at position 174 was estimated to 1%
+Part of the Lgn1 locus that determines susceptibility to the intracellular pathogen L.pneumophila. Susceptibility differs between inbred mouse strains. Strain C57BL/6J is not permissive, i.e. L.pneumophila cannot multiply in C57BL/6J macrophages, contrary to the situation in mouse strain A/J. Strain FVB/NJ macrophages display intermediate permissiveness for intracellular proliferation of L.pneumophila
+There are two forms of NAT2: a rapid isoform and a slow isoform
+A nonsense mutation in exon 4 results in a premature stop codon leading to a truncated form which determines the resistant/susceptible phenotype of the mice to flaviviruses. Mice encoding the full-length protein show a flavivirus resistance phenotype (Flv(r)), whereas mice encoding a C-terminally truncated protein show a flavivirus susceptible phenotype (Flv(s))
+There are several alleles. The sequence shown is that of IMGT allele IGKV2-24*01
+This sequence corresponds to the allele A, which contains a premature stop at position 301, and is linked to the ability to perform alternate gaits, which can be either pace or four-beat ambling gaits (the wild-type protein sequence: AC F6W2R2). The allele A sequence has a favorable effect on harness racing performance and on the diversification of the domestic horse, as the altered gait characteristics of a number of breeds apparently require this mutation. Homozygosity for the mutation is required, but not sufficient for pacing, as many Standardbred trotters and some Icelandic horses that are homozygous for this mutation do not pace. Allele A has been shown to be present in the following horse populations: Icelandic horses four-gaited and five-gaited, Kentucky mountain saddle horse, Missouri fox trotter, Paso fino, Peruvian paso, Rocky mountain horse, Tennessee walking horse, Standardbred trotter (Sweden, USA), Standardbred pacer (USA), and French trotter (France)
+Variant Ala-164 is found in strain BALB/cJ which has a low intraocular pressure (PubMed:9588210, PubMed:9675094). Variant Thr-164 is found in strains C3H/HeJ and C57BL/6J, two strains which have a relatively high intraocular pressure (PubMed:9588210, PubMed:9548973, PubMed:9680392)
+AQP1 is responsible for the Colton blood group system [MIM:110450]. Approximately 92% of Caucasians are Co(A+B-) (Ala-45), approximately 8% are Co(A+B+), and only 0.2% are Co(A-B+) (Val-45). Co(A-B-) which is very rare, is due to a complete absence of AQP1
+The poly-Gln region of ATXN1 is highly polymorphic (4 to 39 repeats) in the normal population and is expanded to about 40-83 repeats in spinocerebellar ataxia 1 (SCA1) patients
+The second poly-Gln region of KCNN3 is highly polymorphic and the number of Gln varies from 12 to 28 in the population
+There are several alleles. The sequence shown is that of IMGT allele IGKV1-5*03
+There are several alleles. The sequence shown is that of IMGT allele TRBV7-7*01
+A polymorphism in IL10 promoter region is associated with resistance to graft-versus-host disease (GVHDS) [MIM:614395]. GVHDS is a major complication of allogeneic bone marrow transplantation, in which mature donor T-cells that contaminate the allogeneic bone marrow recognize the tissues of the recipient as foreign, causing a severe inflammatory disease
+The polymorphism between the different cultivars influence the specificity to the pathogen recognition. In cv. Po.1, KNO2, BG-4 and Zu-0, RPS2 does not confer resistance to AvrRpt2
+The allele MC1R-delta-15 is associated with melanistic coat coloration
+There are two common APOA-IV isoforms, I (shown here) and E. The I isoform is associated with higher levels of high density lipoprotein-C on a high cholesterol, saturated fat diet
+2 electrophoretic alleles are known: fast and slow. The isoform shown here is the fast form
+At least 2 different SAA2 alleles have been described: SAA2.1 (SAA2alpha) and SAA2.2 (SAA2beta). We use here the revised nomenclature described in PubMed:10211414. The sequence shown is that of SAA2.2
+The TLR5 gene lies in a locus that is associated with susceptibility to Salmonella. Inbred strains of mice can be classified into 3 categories according to their resistance to infection with S.typhimurium: susceptible (BALB/c, C57BL/6, C3H/He), intermediate (DBA/2, C75L) and resistant (A, CBA). The strain MOLF/Ei is highly susceptible to the infection, has an unique TLR5 haplotype and a lower expression of TRL5
+There seems to be three variants of IFN-tau 2: A/P8V2/P7 (shown here), B/P8V4 and C/P8
+There are two alleles. The sequence shown is that of beta-1; the most frequent of the two common alleles
+Genetic variations in IFITM3 are responsible for susceptibility to severe influenza virus infection [MIM:614680]
+There is an allele VN1R5*2 with a truncating mutation in position 46. It was found with a frequency of about 32%
+Two major variants, F and S, and 2 minor variants, as well as at least 14 very rare variants, have been identified
+There are several alleles. The sequence shown is that of IMGT allele TRBC2*03
+Responsible for the Cromer blood group system (CROM) [MIM:613793]. It consists of at least 8 high-incidence (Cr(a), Tc(a), Dr(a), Es(a), WES(b), UMC, IFC and GUTI) and three low-incidence (Tc(b), Tc(c) and WES(a)) antigens that reside on DAF. In the Cromer phenotypes Dr(a-) and Inab there is reduced or absent expression of DAF, respectively. In the case of the Dr(a-) phenotype, a single nucleotide substitution within exon 5 accounts for two changes: a simple amino acid substitution, Leu-199 that is the basis of the antigenic variation, and an alternative splicing event that underlies the decreased expression of DAF in this phenotype. The Inab phenotype is a very rare one in which the red blood cells lack all Cromer system antigens. The red blood cells of individuals with Inab phenotype have a deficiency of DAF, but these individuals are not known to have any associated hematologic or other abnormalities (PubMed:12675719)
+The naturally occurring CB4856 strain isolated in Hawaii carries a deletion of str-217 and is resistant to N,N-diethyl-meta-toluamide (DEET)
+There are several alleles. The sequence shown is that of IMGT allele TRAV12-3*01
+Variant Ile-117 may be a risk factor for atopic asthma
+There are two defensin B isoforms, B1 (shown here) and B2
+This gene contains polymorphic substitutions in the last exon causing a frameshift variant C-terminal sequence compared to the official human genome. However, this variant sequence is in agreement with ortholog sequences
+Genetic variations in MRC1 may influence susceptibility or resistance to leprosy in some populations. Particularly, Gly-396 seems to be a risk factor for leprosy when associated with Ala-399 and Phe-407
+The insertion of an adenine adjacent to the donor splice site of exon 6 (dbSNP:rs72613567) is associated with reduced risk of non-alcoholic fatty liver disease and protection from chronic liver disease [MIM:620116]. It is also associated with reduced risk of hepatocellular carcinoma (PubMed:29562163, PubMed:34930143). Variant rs72613567 alters mRNA splicing and results in the synthesis of a truncated, unstable protein. Liver samples from variant carriers contain reduced levels of isoform 1 and isoform 2 transcripts (PubMed:29562163)
+Genetic variations in GCKR define the fasting plasma glucose levels quantitative trait locus 5 (FGQTL5) [MIM:613463] (PubMed:18556336, PubMed:18678614). The normal fasting plasma glucose level is defined as less than 100 mg glucose per deciliter plasma (5.55 mmol per liter). Higher fasting plasma glucose levels predict type 2 diabetes in young adults and increases the risk of mortality (PubMed:18556336, PubMed:18678614)
+Leu-152 is present in the variants F and G; Gln-190 and Glu-210 are present in the variant H. The sequence shown is the A2 variant
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-7*03
+GYPC is responsible for the Gerbich blood group system (Ge) [MIM:616089]. Ge negative individuals carry a deletion of GYPC exon 3
+Deletion of exon 3 in GYPC results in resistance to Plasmodium falciparum invasion and protection against severe malaria [MIM:611162]
+Three alleles of K4 are known: K4A1, K4A2 and K4B (displayed here)
+Nlrp1b gene is extremely polymorphic. 5 alleles have been described in 18 inbred strains: 1 (AC Q2LKW6), 2 (AC A1Z198), 3 (AC Q2LKV5), 4 (this entry) and 5 (AC Q0GKD5). These alleles define susceptibility to B.anthracis lethal toxin (LT). Alleles 2 (carried by A/J, C57BL/6J and I/LnJ), 3 (AKR/J, NOD/LtJ and SJL/J) or 4 (DBA/2J, P/J and SM/J) are not activated by LT. Alleles 1 (carried by 129S1/SvImJ, BALB/cJ, C3H/HeJ, CBA/J, FVB/NJ, NON/ShiLtJ, NZO (NZO/HlLtJ) and SWR/J strains) and 5 (CAST/EiJ) confer macrophage susceptibility to LT. In susceptible strains, infection by Bacillus anthracis leads to IL1B release, neutrophil recruitment and macrophage pyroptosis. This early inflammatory response confers increased resistance to infection (PubMed:16429160). The sequence shown in this entry is that of allele 4 (PubMed:16429160)
+The beta-II allele is shown. It occurs much more frequently than the beta-I allele
+There are several alleles. The sequence shown is that of IMGT allele IGHV7-81*01
+There are two alleles; beta-II and beta-III. There are two forms of the beta-III allele, a short and a long form. The short form (also named frameshifted form) is carried by 23% and 19% of individuals of European and African ancestry but 0% of Asian subjects. The sequence shown is that of allele beta-III short form
+RHD and RHCE are responsible for the Rh blood group system. The molecular basis of the Tar=Rh40 blood group antigen is a variant in position 110. Homozygous deletion of the RHD gene results in Rh-negative (dd) individuals (PubMed:1824267, PubMed:10845894). Some polymorhisms lead to weak RHD expression. This phenotype called weak D, formerly known as D(u), is observed in about 0.2% to 1% of Caucasians (PubMed:9864185). Moderately decreased RHD expression results in a phenotype called DHMi (PubMed:9864185)
+Chymotrypsin uses Ala-465 as its reactive site in normal plasma protease C1 inhibitor, and His-466 as its reactive site in the variant His-466
+The T-kinin peptide is missing residues 378 to 380, probably as a result of a naturally occurring variant. The complete sequence of the T-kinin peptide is therefore ISRPPGFSPFR. This peptide is associated with malignant tumors but not with benign ones
+The Ala-189 allele may be a susceptibility factor for dioxin-related male infertility. Homozygosity for Ala-189 is observed in azoospermic individuals at higher frequency than in normozoospermic individuals (PubMed:15474075, PubMed:17559847). Might also be associated with susceptibility to and severity of endometriosis
+Segregating pseudogene, locus showing both intact and pseudogene forms in the population. A double nucleotide deletion at position Pro-144 in the gene coding for this protein is responsible for functional diversity, producing a pseudogene
+Various VN1R4 alleles are known. The sequence shown is that of allele VN1R4*1
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-58*01
+There are several alleles. The sequence shown is that of IMGT allele IGKV1D-13*02
+Variants Val-Glu-Val-Val-Ala-Glu-79 Ins and Arg-195 are shown to be present in a number of TSPY1 copies of the Yp11 loci. Variant Arg-195 is shown to be present at least in one TSPY1 copy of the Yq locus
+Maps to a tandemly repeated region on chromosome Yp11; additionally at least one copy is reported originating from Yq. The gene is thought to be present with an inter-individual variation in copy number and between 20 and 60 copies per Y chromosome are expected. PubMed:12815422 reports 35 tandemly repeated gene copies on Yp11 originating from one individual
+A stop codon at position Trp-66 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in African-Americans than in non-Africans
+There are two allelic forms, allozyme A and B, which differ in their substrate specificity. Both forms have similar arylesterase activity but allozyme B possesses greater paraoxonase activity. Allozyme A is better at protecting LDL from oxidation
+The poly-Ala region is polymorphic (11 to 15 residues) in the normal population and is expanded to about 22-29 residues in SPD1 and syndactyly type 5 patients
+The enzyme from cv. SD1 has very low verbascose synthase activity whereas stachyose synthase activity is normal
+The frequency of variant Val-198 is 0.237, 0.244 and 0.176 in Italian breeds Comisana, Sarda and Sopravissana, respectively
+There are two common alleles, AHSG*1 and AHSG*2. AHSG*1 has Thr-248/Thr-256; AHSG*2 has Met-248/Ser-256
+At least 6 electrophoretic isozymes are known: Amy1, Amy2, Amy3, Amy4, Amy5 and Amy6. Strains KO123 expresses Amy1; J87 expresses Amy3; 1420#1, L16 and TN256 express Amy6
+Genetic variation in FOLH1 may be associated with low folate levels and consequent hyperhomocysteinemia. This condition can result in increased risk of cardiovascular disease, neural tube defects, and cognitive deficits
+Two isoforms have been identified which differ by 3 residues
+SMIM1 is responsible for the Vel blood group system (VEL) [MIM:615264]. The Vel antigen is present on red blood cells from all people except rare Vel-negative individuals who can form antibodies to Vel in response to transfusion or pregnancy. These antibodies may cause severe hemolytic reactions in blood recipients. In most cases, Vel-negative individuals are homozygous for a 17-nucleotide frameshift deletion in exon 3. In some cases, Vel-negative are heterozygous for the 17-nucleotide frameshift deletion and a missense variant at position 51
+A single amino acid substitution of Val-914 to Ala increases HMA4 copper transport activity. This allele is found in a number of rice cultivars, such as cv. Lemont, and is associated with low accumulation of copper in rice grains. Identification of natural allelic variation in HMA4 may facilitate the development of rice varieties with grain copper concentrations adapted to dietary needs in function of the copper concentration in soil
+The number of repeats is shown to vary between 29 and 30
+There are several alleles. The sequence shown is that of IMGT allele IGLV3-16*01
+Variations in TNPO3 are associated with resistance or susceptibility to immunodeficiency virus type 1 (resistance or susceptibility to HIV-1) [MIM:609423] (PubMed:31465518). A variation that causes LGMDD2 muscular dystrophy induces protection against HIV-1 infection (PubMed:31465518)
+There are several alleles. The sequence shown is that of IMGT allele TRAV8-1*01
+RhCE and RhD are responsible for the RH blood group system. The molecular basis of the E=Rh3/e=Rh5 blood group antigens is a single variation in position 226; Pro-226 corresponds to Rh3 and Ala-226 to Rh5. The molecular basis of the C=Rh2/c=Rh4 blood group antigens is a single variation in position 103; Ser-103 corresponds to Rh2 and Pro-103 to Rh4
+In strains 101, 129/SvJ and CBA, a polymorphism deletes the acceptor site of exon 2 which causes exon 1 to be spliced to exon 3 and generates a frameshift and premature stop codon (PubMed:12573667, PubMed:15037121). The polymorphism leads to retinal lens fiber cell nuclear opacity beginning at 1 month of age, opacity becomes more pronounced with age (PubMed:14985306). Reduced intermediate filaments and loss of the association of the lens fiber cell cytoskeleton with the plasma membrane (PubMed:15037121, PubMed:14985306)
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-53*02
+The following alleles of B2M are known: A, B, W2, W3, W4 and W5 (C). The sequence shown is that of allele B
+Present as a single-copy gene in strains such as BALB/c and C57BL/6 while some strains such as Swiss and Akr contain two copies
+The number of repeats is highly polymorphic. It varies from 21 to 125 in the northern European population. The most frequent alleles contains 41 and 85 repeats. The tandemly repeated icosapeptide underlies polymorphism at three positions: PAPGSTAP[PAQT]AHGVTSAP[DT/ES]R, DT -> ES and the single replacements P -> A, P -> Q and P-> T. The most frequent replacement DT -> ES occurs in up to 50% of the repeats
+A CAG trinucleotide repeat occurs in the 5'-UTR of this gene. This repeat has been found to be highly polymorphic, although expanded alleles have not yet been definitely linked with any phenotypic abnormality
+Genetic variation in SLC6A18 is not a significant predictor for elevated systolic or diastolic blood pressure and is not associated with hypertension in the Japanese population (PubMed:16340170)
+Variant Ile-105 has a reduced activity and seems to be linked with a predisposition to asthma
+Genetic variations in SORT1 influence low density lipoprotein cholesterol (LDL-C) variability and contribute to the low density lipoprotein cholesterol level quantitative trait locus 6 (LDLCQ6) [MIM:613589]
+There are several alleles. The sequence shown is that of IMGT allele TRAV25*01
+Genetic variants in OCA2 define the skin/hair/eye pigmentation variation locus 1 (SHEP1) [MIM:227220]; also known as skin/hair/eye pigmentation type 1, blue/nonblue eyes or skin/hair/eye pigmentation type 1, blue/brown eyes or skin/hair/eye pigmentation type 1, blond/brown hair or eye color, brown/blue or eye color, blue/nonblue or eye color type 3 (EYCL3) or brown eye color type 2 (BEY2) or hair color type 3 (HCL3). Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. OCA2 polymorphisms may act as a penetrance modifier of the risk of malignant melanoma
+Variations in cort gene cortex directly affect wing pigmentation patterning. Variations affecting cort expression have become a major target for natural selection acting on color and pattern variation in lepidoptera
+Three common molecular polymorphisms (2 in the promoter region and Phe-12) account for 15.5% of the genetic contribution to variance in life span, the polymorphisms are maintained by balancing selection
+There are several alleles. The sequence shown is that of IMGT allele TRAV14/DV4*01
+In rats there are two non-allelic alpha chains and two non-allelic beta chains
+Genetic variation in CDSN may be associated with susceptibility to psoriasis [MIM:177900] (PubMed:10599883, PubMed:12472658, PubMed:10844560). Various CDSN alleles are known including alleles 1.11, 1.21, 1.31, 1.32, 1.41, 1.42, 1.43, 1.51, 1.52, 2.11, 2.21, 2.22 and 2.23 (PubMed:11169256)
+There are several alleles. The sequence shown is that of IMGT allele IGKV2-40*01
+A nonsynonymous SNP at position Cys-100, a highly conserved amino-acid, in the gene coding for this protein is responsible for functional diversity
+The following alleles of HLA-DPB1 are known: DPB1*01:01, DPB1*01:02, DPB1*02:01, DPB1*02:02, DPB1*02:03, DPB1*03:01, DPB1*03:02, DPB1*04:01, DPB1*04:02, DPB1*04:03, DPB1*05:01, DPB1*05:02, DPB1*06:01, DPB1*06:02, DPB1*08:01, DPB1*08:02, DPB1*09:01, DPB1*09:02, DPB1*10:01, DPB1*10:02, DPB1*11:01, DPB1*11:02, DPB1*13:01, DPB1*13:02, DPB1*14:01, DPB1*14:02, DPB1*15:01, DPB1*15:02, DPB1*16:01, DPB1*16:02, DPB1*17:01, DPB1*17:02, DPB1*18:01, DPB1*18:02, DPB1*19:01, DPB1*19:02, DPB1*20:01, DPB1*20:02, DPB1*21:01, DPB1*21:02, DPB1*22:01, DPB1*22:02, DPB1*23:01, DPB1*24:01, DPB1*24:02, DPB1*25:01, DPB1*25:02, DPB1*26:01, DPB1*26:02, DPB1*27:01, DPB1*28:01, DPB1*29:01, DPB1*30:01, DPB1*31:01, DPB1*32:01, DPB1*33:01, DPB1*34:01, DPB1*35:01, DPB1*36:01, DPB1*37:01, DPB1*38:01, DPB1*39:01, DPB1*40:01, DPB1*41:01, DPB1*44:01, DPB1*45:01, DPB1*46:01, DPB1*47:01, DPB1*48:01, DPB1*49:01, DPB1*50:01, DPB1*51:01, DPB1*52:01, DPB1*53:01, DPB1*54:01, DPB1*55:01, DPB1*56:01, DPB1*57:01, DPB1*58:01, DPB1*59:01, DPB1*60:01, DPB1*62:01, DPB1*63:01, DPB1*65:01, DPB1*66:01, DPB1*67:01, DPB1*68:01, DPB1*69:01, DPB1*70:01, DPB1*71:01, DPB1*72:01, DPB1*73:01, DPB1*74:01, DPB1*75:01, DPB1*76:01, DPB1*77:01, DPB1*78:01, DPB1*79:01, DPB1*80:01, DPB1*81:01, DPB1*82:01, DPB1*83:01, DPB1*84:01, DPB1*85:01, DPB1*86:01, DPB1*87:01, DPB1*88:01, DPB1*89:01, DPB1*90:01, DPB1*91:01, DPB1*92:01, DPB1*93:01, DPB1*94:01, DPB1*95:01, DPB1*96:01, DPB1*97:01, DPB1*98:01 and DPB1*99:01. The sequence shown is that of DPB1*04:01
+The copy number of the CC4L1 gene varies among individuals; most individuals have 1 to 6 copies in the diploid genome
+There are several alleles. The sequence shown is that of IMGT allele TRBV23-1*01
+Three allotypes are known: allotype T61, allotype T62 and allotype T63. The sequence shown is that of allotype T62
+This envelope gene is polymorphic with at least three different alleles (called HERV-K18.1, HERV-K18.2 and HERV-K18.3). A polymorphism introducing a premature stop codon in position 154 is present in allele HERV-K18.1 resulting in a truncated SU protein. The sequence shown is that of HERV-K18.2
+Some positive evidence of genetic association found between allele HERV-K18.3 and type 1 diabetes
+The length of the poly-Gln expansion is variable and may contain one or more interruptions that introduce arginines into the polyglutamine repeat tract
+Genetic variants in TYR define the skin/hair/eye pigmentation variation locus 3 (SHEP3) [MIM:601800]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair
+Compound heterozygosity for the R402Q polymorphism and a mutant allele of TYR is a common cause of autosomal recessive ocular albinism. The R402Q polymorphism is also found in Waardenburg syndrome type II with ocular albinism in association with a deletion in the MITF gene
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-38-4*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV34*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV38-2/DV8*01
+4 alleles have been identified in 32 Caucasian individuals: ULBP6*01 (frequency 0.483), ULBP6*02 (frequency 0.424), ULBP6*03 (frequency 0.069) and ULBP6*04 (frequency 0.024). The sequence shown is that of ULBP6*03 (PubMed:19658097). Allele ULBP6*02 has a much higher affinity for KLRK1/NKG2D than allele ULBP6*01, but elicits less-efficient cytotoxicity. This high binding affinity and limited functional potency may depend upon the presence of the Leu residue at position 106 (PubMed:28559451)
+Polymorphisms are associated with dyslipidemia. Variant Asn-254 is associated with LDL-cholesterol levels in Japanese population (PubMed:20224571). Association with peripheral arterial disease has also been observed (PubMed:20610895)
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-9*01
+There are several alleles. The sequence shown is that of IMGT allele IGLV3-27*01
+Variant present in the strains cv. USLK1, cv. USCR8, cv. USCR7, cv. Sonesta, cv. Polder, cv. Paloma, cv. Laureat and cv. Baby Bop, allele PveIF4E(4), confers an increased resistance to clover yellow vein virus (ClYVV) strain NY (ClYVV-NY) but susceptibility to bean common mosaic necrosis virus (BCMNV) strain NL 3D (BCMNV-NL 3D)
+Variant present in the strains cv. GN 1140, cv. Black Knight, cv. Amanda, cv. Imuna, cv. Clipper and cv. CY-10 S4, alleles PveIF4E(3) and cyv, confers an increased resistance to clover yellow vein virus (ClYVV) strain NY (ClYVV-NY) but susceptibility to bean common mosaic necrosis virus (BCMNV) strain NL 3D (BCMNV-NL 3D)
+Variant present in the strains cv. Jolanda, cv. Imuna and cv. Evolutie, allele desc, confers an increased resistance to clover yellow vein virus (ClYVV) strain NY (ClYVV-NY) but susceptibility to bean common mosaic necrosis virus (BCMNV) strain NL 3D (BCMNV-NL 3D)
+Variant present in the strains cv. IVT 7214, cv. B/R RIL 105-25, cv. USWK-6 and cv. USWKH x H S4, allele bc-3, confers an increased resistance to clover yellow vein virus (ClYVV) strain NY (ClYVV-NY) and to bean common mosaic necrosis virus (BCMNV) strain NL 3D (BCMNV-NL 3D)
+Variant present in the strains cv. Raven, allele PveIF4E(2)Raven, allele PveIF4E(2), confers an increased resistance to clover yellow vein virus (ClYVV) strain NY (ClYVV-NY) and to bean common mosaic necrosis virus (BCMNV) strain NL 3D (BCMNV-NL 3D)
+Envelope protein HERV-H19 and HERV-H/p62 are allelic variants of the same provirus
+Variant Cys-379, under a dominant model, linked to a recessive mutation in LKB1, may be associated with susceptibility to type II or non-insulin-dependent diabetes mellitus (NIDDM)
+Genetic variation in B3GALNT1 is responsible for the blood group P1PK system [MIM:111400]. Different combinations or absence of the P1PK antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and P. The P1(k) and P2(k) phenotypes are rare and characterized by lack of the P antigen
+B3GALNT1 activity is responsible for the globoside blood group system (GLOB), which is defined by the P antigen [MIM:615021]
+Ser-311 is associated with an increased risk of cornary heart disease
+Genetic variations in TIRAP have been proposed to influence susceptibility or resistance to invasive pneumococcal disease, malaria [MIM:611162], and tuberculosis [MIM:607948]. It may define the bacteremia susceptibility locus 1 (BACTS1) [MIM:614382] (PubMed:17322885, PubMed:19602285). Indeed it has been reported that heterozygous carriage of p.Ser180Leu in populations from the U.K., Vietnam, and several African countries may confer protection against invasive pneumococcal disease, bacteremia, malaria, and tuberculosis (PubMed:17322885). However, analyzes of Russian, Ghanaian and Indonesian populations fail to replicate the association between p.Ser180Leu and susceptibility to tuberculosis formerly observed in West African and Algerian populations (PubMed:17322885, PubMed:18305471)
+Isoform 3 is highly polymorphic with three major alleles: H, C1 and C1. The H allele is found at higher frequencies in Japanese (0.71) and Taiwan Chinese (0.72) populations compared to European (0.45) and African (0.39) populations. The H allele may be associated with smaller head size in infants
+There are two alleles. The sequence shown is that of beta-A
+There are several alleles. The sequence shown is that of IMGT allele IGKV3D-15*03
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-74*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV6*01
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-46*01
+Genetic variations in ABCB6 define the Langereis blood group system (LAN) [MIM:111600]. Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features
+There are several alleles. The sequence shown is that of IMGT allele TRBV4-2*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV20*01
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-21*01
+Genetic variations in CHRNA3 have been associated with susceptibility to smoking-related behavioral traits and lung cancer, contributing to the smoking quantitative trait locus 3 (SQTL3) [MIM:612052]
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-64D*06
+There are several alleles. The sequence shown is that of IMGT allele IGHV4-28*07
+Lys-232 is associated with higher milk fat content
+The following alleles of DMA are known: DMA*01:01, DMA*01:02, DMA*01:03 (DMA3.2) and DMA*01:04 (DMA3.4). The sequence shown is that of DMA*01:01
+EDN1 genetic variants may influence high density lipoprotein cholesterol (HDLC) levels in some populations and in a sex-specific manner, defining the high density lipoprotein cholesterol level quantitative trait locus 7 (HDLCQ7) [MIM:618979]
+There are several alleles. The sequence shown is that of IMGT allele TRBV6-8*01
+At least two alleles exist. The sequence of the B allele is shown here
+The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and insulin responses
+Genetic variations in CETP define the high density lipoprotein cholesterol level quantitative trait locus 10 (HDLCQ10) [MIM:143470]
+The MAF1 locus encodes multiple tandemly duplicated paralogs that vary in expression, sequence and copy number across T.gondii strains (PubMed:26920761, PubMed:24781109). For instance, type I strain GT1 has 6 copies, type I strain RH has 4 copies, type II strains ME49 and PRU have 4 copies, type III strain VEG has 4 copies and type III strain CTG has only 2 copies (PubMed:26920761). The paralogs are classified into two groups, a and b and have probably arisen from the neofunctionalization of an ancestral MAF1 a gene (PubMed:26920761). They are characterized by the presence or absence of a repetitive stretch of 4 to 7 prolines followed by a serine (P(4:7)S), as well as differences in the amino acids surrounding the proline motif (PubMed:26920761). This motif is either completely missing (a and b0 paralogs) or repeated up to six times (b paralogs) (PubMed:26920761). cross the strains, transcript levels for the a paralogs are similar, however, in type II strain ME49, transcript levels for the b paralogs are low and no paralog MAF1 b1 protein is produced (PubMed:26920761, PubMed:24781109). Paralogs differ in their ability to mediate host mitochondrial association (HMA), but also in their ability to confer a selective advantage during infection in a mouse model (PubMed:26920761, PubMed:24781109, PubMed:29505111). Tachyzoites from type I and III strains associate with host mitochondria (HMA(+)), while tachyzoites from type II strains, such as ME49, do not associate with host mitochondria (HMA(-)) due to a lack of MAF1 b1 expression (PubMed:26920761, PubMed:24781109)
+A polymorphism exists that is responsible for the nonagouti phenotype, characterized by a plain black coat on the back and belly. This is due to a 19-bp deletion resulting in a frameshift at position 36 and a premature stop codon at position 48
+Both strain WKAH (agouti) and strain BN (nonagouti) contain a substitution at the splice donor site of intron 3, resulting in a shorter isoform lacking exon 3 which causes reduced expression levels in strain WKAH and almost undetectable levels in strain BN
+Genetic variants in AGXT2 are association with beta-aminoisobutyric aciduria (BAIBA)[MIM:210100]. Excretion of beta-aminoisobutyric acid in urine is a common, benign, metabolic trait
+The number of repeats is highly polymorphic and varies among different strains
+SLC14A1 is responsible for the Kidd blood group system (JK) [MIM:111000]. JK is defined by 2 alleles, JK*01 and JK*02 that give rise to Jk(a) and Jk(b) antigens respectively. The molecular basis of the Jk(a)/Jk(b) antigens is a single variation in position 280; Asp-280 corresponds to Jk(a) and Asn-280 to Jk(b). Some individuals carry silenced JK*01 and JK*02 alleles, designated JK*01N or JK*02N. They results in a Jk(null) phenotype associated with reduced urea permeability of red blood cells. Jk(null) is not associated with any obvious clinical syndrome except for a urine concentration defect
+Three common alleles of ORM1 are known. ORM1*F1 has Gln-38/Val-174; ORM1*F2 has Gln-38/Met-174 and ORM1*S has Arg-38/Val-174. The sequence shown is that of allele ORM1*S
+The Asp727Glu polymorphism is associated with Graves disease in a Russian population. The Glu727 allele and the heterozygous Asp727Glu genotype are related to higher risk of the disease. The Asp727Glu polymorphism significantly ameliorates G(s)alpha protein activation in the presence of the gain-of-function mutation Ala593Asn although it is functionally inert in the context of the wild-type TSHR
+The most common allele, MUC7*6, contains a tandem repeat domain comprising 6 repeats (shown here) each composed of 23 amino acids. These repeats are very similar but not identical. In a large cohort of 375 individuals from a variety of ethnic backgrounds, three different alleles were detected, MUC7*6 being the most common, in all populations studied, followed by MUC7*5 (5 repeats), with frequency varying from 0.05 in Africans to 0.22 in East Asians. The MUC7*5 allele is less prevalent in patients with asthma than in controls, and seems to have a protective role in respiratory function. MUC7*8 (8 repeats), a novel rare allele, was identified in 1 Northern European individual
+The number of repeats of 17 amino acids in the C-terminal is polymorphic and varies between 3 and 4. The majority of available transcripts lacks one of these repeats. The sequence shown, corresponding to the reference genome (GRCh38/hg38), contains 4 repeats
+Allelic variation results in a protein with three, four or five tandem copies of Pro-Thr-Val-thr
+There are several alleles. The sequence shown is that of IMGT allele TRBV7-6*01
+A stop codon in the gene coding for this protein at position Tyr-27 is responsible for functional diversity thus producing a pseudogene
+There are several alleles. The sequence shown is that of IMGT allele TRBV6-2*01
+Variant present in the strain cv. PI 247087, allele pot-1, exhibits a functionnal mRNA capping activity and an increased resistance to potyviruses (e.g. pepper mottle virus (PepMoV), potato virus Y (PVY) and tobacco etch virus (TEV))
+The number of deca-peptide repeats in the C-terminus varies across P.falciparum strains (PubMed:19777263). Strain 3D7 has 12 copies; Dd2 has 14 copies; Hondura-1, FCC1, FCC2, and T996 have 17 copies; and strain D10 and FCR3 have 19 copies (PubMed:19777263)
+There are two alleles. The sequence shown is that of beta-II
+A stop codon in the gene coding for this protein at position Arg-136 is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in African-Americans than in non-Africans
+There are two alleles alpha and beta-I. The sequence shown is that of allele beta-I
+There are several alleles. The sequence shown is that of the functional IMGT allele IGKV2-29*02 that is not represented on the reference genome assembly (GRCh38/hg38). The sequence of the reference genome assembly (GRCh38/hg38) is that of IMGT allele IGKV2-29*01 that is a pseudogene due to a stop codon polymorphism at position 113
+Variant Cys-1142 found in diabetic GK strain may be a cause of diabete in this strain. Genetic variations in Inppl1 may also be a cause of susceptibility to hypertension
+This gene is present in strains 129/J, 129/SvJ, BALB/cAn, BALB/cJ, BALB/cHeA, CBA/N, C3H/HeJ, C3H/HeN, C57BL/6J, C57BL/10SnJ, C57L/J, NOD and NZW/LacJ but is absent in strains 129S6/SvEvTac, AKR/N, A/J, DBA/2J, NON, NZB/BlNJ, P/J, SENCARA/Pt, SWR/J and STS/A
+Genetic variations in WNT1 define the bone mineral density quantitative trait locus 16 (BMND16) [MIM:615221]. Variance in bone mineral density influences bone mass, contributes to size determination in the general population, and is a susceptibility factor for osteoporotic fractures
+A stop codon in the gene coding for this protein at position Tyr-259 is responsible for functional diversity thus producing thus a pseudogene
+At least four alleles are known. The sequence shown is that of allele A. The frequency of variant Thr-209 is 0.263, 0.122 and 0.191 in Italian breeds Comisana, Sarda and Sopravissana, respectively
+2 alleles have been identified: UGT2B7*1 (His-268) and UGT2B7*2 (Tyr-268). The sequence shown is that of allele UGT2B7*2
+Some sequences seem to have a duplication of exon 2
+The Val-58 allele is significantly overrepresented in demented patients (11.8%) compared with non-demented controls (4.9%). Carriers of the Val-58 allele have a 3.1-fold increased risk for developing AD than non-carriers
+There are several alleles. The sequence shown is that of IMGT allele IGKV1D-8*01
+Four allelic beta chains have been found in bovine hemoglobins. A and B alleles were found in Jersey cattle and C and D alleles were found in Angoni cattle (East African short-horn zebu). The sequence shown is that of the allele A
+Variations between cultivars affect flowering time and plant height
+There are several alleles. The sequence shown is that of IMGT allele TRGV3*02
+Genetic variants in IRF4 define the skin/hair/eye pigmentation variation locus 8 (SHEP8) [MIM:611724]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair
+There are several alleles. The sequence shown is that of IMGT allele IGHV4-30-2*01
+There are several alleles. The sequence shown is that of IMGT allele TRBC1*01
+All three alleles (A, B and C) have similar nucleoside transport activity
+Leu-86 causes a dysregulation of Ca(2+) homeostasis and amyloid precursor protein (APP) metabolism and has been suggested to be a risk factor for the development of Alzheimer disease (PubMed:18585350, PubMed:20061624, PubMed:20164592). However, this association with Alzheimer disease could not be confirmed in a number of studies performed in different populations (PubMed:19472444, PubMed:19070563, PubMed:19191331, PubMed:19191332, PubMed:19545933, PubMed:19655363, PubMed:21378601). According to a meta-analysis study, Leu-86 is likely not a genetic determinant of Alzheimer disease but may modulate age of onset by interacting with the effect of the APOE*4 allele of the APOE gene (PubMed:20847397)
+Variant present in the strain cv. PI 161375, allele nsv, confers an increased resistance to Tombusviridae genus Carmovirus such as melon necrotic spot virus (MNSV) strain Malpha5 but not to the strain 264, associated with a normal mRNA cap-binding activity, but an impaired ability to support cap-independent translation of mRNAs
+A rare double polymorphism may allow the expression of a functional protein (PubMed:15051713). However, following studies could not confirm the combined existence of both polymorphisms and therefore question the existence of that protein (PubMed:16169517, PubMed:17494644)
+Genetic variations in APOA1 can result in APOA1 deficiency and are associated with low levels of HDL cholesterol [MIM:107680]
+There are several alleles. The sequence shown is that of IMGT allele TRAV8-4*01
+The polymorphism in position 192 seems to be responsible for the increase in number of vertebrae in domestic pigs. Wild boars uniformly have 19 vertebrae, while European commercial breeds have 21 to 23 vertebrae The ancestral form with Leu-192 has a 3 times lower binding activity to UIMC1 than Pro-192. The binding to NCOR1 is twice lower with Leu-192 than with Pro-192
+There are several alleles. The sequence shown is that of IMGT allele IGHV2-5*02
+Two variants of the protein are called hemoglobin I and hemoglobin II
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-64*02
+There are a number of different S alleles in B.oleracea, possibly providing the recognition specificity
+There are several alleles. The sequence shown is that of IMGT allele IGLC1*02
+Placental ALP is highly polymorphic, there are at least three common alleles
+Genetic variations in PPARG define the body mass index quantitative trait locus 1 (BMIQ1) [MIM:606641]. The body max index (BMI) reflects the amount of fat, lean mass, and body build
+Genetic variations in PPARG influence the carotid intimal medial thickness (CIMT) [MIM:609338]. CIMT is a measure of atherosclerosis that is independently associated with traditional atherosclerotic cardiovascular disease risk factors and coronary atherosclerotic burden. 35 to 45% of the variability in multivariable-adjusted CIMT is explained by genetic factors
+The murine poly-Gln region is very limited in comparison to human ATXN1 and is not polymorphic
+Genetic variation in A4GALT is responsible for the P1PK system blood group phenotypes [MIM:111400]. Different combinations or absence of the P blood group system antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and p. Genetic variation in A4GALT determines the p phenotype, which is rare and does not express any antigens. It is also known as null phenotype; p individuals have antibodies against P, P1 and Pk antigens in their sera. These antibodies are clinically important because they can cause severe transfusion reactions and miscarriage (PubMed:10993874, PubMed:11896312). Genetic variation in A4GALT is also responsible for the NOR polyagglutination syndrome [MIM:111400]. Polyagglutination is the occurrence of red cell agglutination by virtually all human sera, but not by autologous serum or sera from newborns, creating a risk of complications during transfusions of NOR erythrocytes. It is caused by the unusual Gal(alpha1-4)GalNAc glycolipid epitope (PubMed:22965229)
+Highly expressed in juveniles of strains BALB/C and C56BL/5 but expression is not detected in juveniles of strains CBA or C3H/He
+Two variants of the protein, hemoglobin I and hemoglobin II seem to exist
+Genetic variation in BCL11A underlies the fetal hemoglobin quantitative trait locus 5 [MIM:142335]. It is associated with quantitative variation in the production of F cells, that is erythrocytes containing measurable amounts of fetal hemoglobin (HbF). In healthy adults, HbF is present at residual levels (less than 0.6% of total hemoglobin) with over twenty-fold variation. Ten to fifteen percent of adults in the upper tail of the distribution have HbF levels between 0.8% and 5.0%, a condition referred to as heterocellular hereditary persistence of fetal hemoglobin (hHPFH). Although these HbF levels are modest in otherwise healthy individuals, interaction of hHPFH with beta thalassemia or sickle cell disease can increase HbF output in these individuals to levels that are clinically beneficial
+The allele with Asn-245 has a significantly greater affinity for thyroxine than the His-245 allele found in Meishan boars. This polymorphism is a candidate for the causative variation affecting testis size in boars
+There are two main alleles of DBH: DBH-A with Ala-318 and DBH-B with Ser-318 (PubMed:10490716, PubMed:10391209, PubMed:10391210)
+Alleles from the pyrethroid-susceptible strains CS (CYP6D1v2) (shown here), aabys (CYP6D1v3), ISK (CYP6D1v4), OCR (CYP6D1v5) and Edinburgh, and one allele from the pyrethroid-resistant strain LPR (CYP6D1v1) are described here
+Mutations in PMEL cause the Dominant white, Dun and Smoky plumage phenotypes in chicken. Both Dominant white and Dun inhibit the expression of black eumelanin giving rise to white plumage while Smoky gives a gray phenotype. The Dominant white phenotype is a breed characteristic of the White leghorn strain
+The length of the RD repeats is variable
+There are several alleles. The sequence shown is that of IMGT allele IGKV2D-28*01
+The stop codon in position 277 is polymorphic and is replaced, though at very low frequency, by a Lys codon allowing the translation of a longer protein. It is not clear if the common, shorter variant shown here is functional or not
+In Rattus norvegicus, Gpr33 is disrupted by a 14 bp deletion. GPR33 has undergone independent pseudogenization in human, chimpanzee, orangutan, siamang and rat. This selective inactivation may be due to its interaction with a putative pathogen that could use GPR33 as a receptor for cell invasion
+Variant Asp-40 does not show altered binding affinities for most opioid peptides and alkaloids tested, but it binds beta-endorphin, an endogenous opioid that activates the mu opioid receptor, approximately 3 times more tightly than the most common allelic form
+The number of repeats is polymorphic and varies among different alleles. The sequence shown is that of allele L (long). There is an allele S (short) which contains 6 tandem repeats
+There are several alleles. The sequence shown is that of IMGT allele IGLV9-49*01
+In many laboratory strains, a natural 11 bp deletion in position 109 leads to a frameshift, which disrupts the gene coding for this protein and produces two ORFs
+The number of SRCR and SRCR-interspersed domains is polymorphic in a variety of tumors and may represent the major site of alterations in cancer
+Variability among SIRT6 alleles may account for variations in life span (PubMed:25541994). A minor allele (rs107251) is associated with a decreased life span of 5.5 and 5.9 years when homozygous (TT); when compared to the major allele homozygous (CC) and heterozygous (CT) genotypes, respectively (PubMed:25541994)
+Individuals with Thr-49 have an increased risk of prostate cancer (PubMed:10501358). The enzyme with Thr-49 has a higher in vitro V(max) than the Ala-49 enzyme (PubMed:10501358)
+Intronic variations in MCM6 upstream from the LCT gene are associated with adult-type hypolactasia [MIM:223100] leading to lactose intolerance, or with lactase persistance. Lactose intolerance is a normal physiological phenomenon caused by developmental down-regulation of lactase activity during childhood or early adulthood. A non-coding variation in MCM6 affects the transcriptional regulation of the LCT gene resulting in down-regulation of lactase activity. However, the majority of Northern Europeans and some African populations have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence)
+The poly-Gln region of ATN1 is highly polymorphic (7 to 23 repeats) in the normal population and is expanded to about 49-75 repeats in DRPLA and HRS patients. Longer expansions result in earlier onset and more severe clinical manifestations of the disease
+The repeat encompassing Pro-495 to Glu-507 may be polymorphic
+The enzyme from cv. GT.1 displays a 3-5 fold lower specific activity than the enzyme from cv. PR 261
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-38*02
+There are several alleles. The sequence shown is that of IMGT allele TRBV5-7*01
+Over 80 variants of human DBP have been identified. The three most common alleles are called GC*1F, GC*1S, and GC*2. The sequence shown is that of the GC*1A1 allele
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-18*01
+Two groups of alleles can be distinguished based on the presence of a 5 amino acid insertion at position 21
+Position 287 is associated with waxy phenotype. Asp-287 is essential for starch synthase activity
+There are several alleles. The sequence shown is that of IMGT allele TRGV9*01
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-69*06
+An alanine stretch that varies from 12 to 19 residues is present. This polymorphisms can be used as a marker to study the role of FOXE1 in other cases of thyroid dysgenesis, especially in familial cases
+A complex variation, consisting of an 81-bp deletion, including the last 4 bp of intron 6 and the first 77 bp of exon 7, followed by 2 insertions was identified. This variation was called Rex polymorphism or 'Re'. All sequenced Devon Rex cats, a breed characterized by curly hair phenotype, were homozygous for this variation and loss of homozygosity was associated with normal hair production (PubMed:20953787). A variation affecting the 5'-splice site at the junction of exon 4 and intron 4 was identified in 2 breeds, Sphynx and Kohana, that are characterized by a hairless phenotype. This variation occurred in the heterozygous or homozygous state in these breeds. It has been called hairless or hr allele and has been suggested of a cause of the hairless phenotype (PubMed:20953787)
+A single nucleotide deletion at position Leu-229 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The deletion is more frequent in African-Americans than in non-Africans
+Genetic variants in SERPINA7 influence the serum levels of thyroxine-binding globulin and define the thyroxine-binding globulin quantitative trait locus (TBGQTL) [MIM:300932]. Individuals with low or high serum levels of thyroxine-binding globulin show, respectively, reduced or elevated protein-bound iodine but are euthyroid and do not manifest major metabolic alterations (PubMed:1294376, PubMed:1515456, PubMed:1901689, PubMed:1906047, PubMed:2155256, PubMed:2501669). Two qualitative TBG variants occur in particular populations. TBG-A is found in 40% of Australian aborigines, it has reduced affinity for thyroxine and triiodothyroxine and increased susceptibility to inactivation by heat or acid (PubMed:2495303). TBG-S ('s' for slow shift on isoelectic focusing) is found in blacks, Eskimos, Melanesians, Polynesians and Indonesians, but not in Caucasians; TBG-S is slightly more thermolabile (PubMed:2115061)
+The poly-Gln tract in AAK07474 may be polymorphic
+There are at least 7 different APOBEC3H/APOBEC3Z3 haplotypes in the feline population. The displayed haplotype 1 is degraded in a feline immunodeficiency virus (FIV) virion infectivity factor (vif)-dependent manner and is inefficient to block vif-proficient FIV replication. Haplotype 5 is resistant to vif-mediated degradation and is able to suppress vif-proficient FIV infectivity
+Nlrp1b gene is extremely polymorphic. 5 alleles have been described in 18 inbred strains: 1 (this entry), 2 (AC A1Z198), 3 (AC Q2LKV5), 4 (AC Q2LKV2) and 5 (AC Q0GKD5). These alleles define susceptibility to B.anthracis lethal toxin (LT). Alleles 1 (carried by strains 129S1/SvImJ, BALB/cJ, C3H/HeJ, CBA/J, FVB/NJ, NON/ShiLtJ, NZO (NZO/HlLtJ) and SWR/J) and 5 (CAST/EiJ) confer macrophage susceptibility to LT. Strains with macrophages resistant to anthrax LT carry alleles 2 (A/J, C57BL/6J and I/LnJ), 3 (AKR/J, NOD/LtJ and SJL/J) or 4 (DBA/2J, P/J and SM/J). Sensitivity to LT leads to IL1B release, macrophage pyroptosis and neutrophil recruitment. This early inflammatory response confers increased resistance to infection by B. anthracis spores (PubMed:16429160, PubMed:19949100, PubMed:21170303). The sequence shown in this entry is that of allele 1 (PubMed:16429160)
+Genetic variations in IL6R determine soluble IL6R serum levels [MIM:614689]
+Genetic variations in IL6R define the IL6 serum level quantitative trait locus [MIM:614752]
+The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 106 in the reference genome. This sequence carries a selenocysteine-insertion element (SECIS)-like structure that during translation may recode an in-frame TGA-stop codon to a selenocysteine. However, there is no evidence that such a protein is produced in vivo. The sequence shown in this entry is that of variant p.Ter106Arg. This variant has a frequency of about 3% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2)
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-30-5*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV4-1*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV10-2*01
+Variations in SDAD1 may be a cause of susceptibility to seasonal allergic rhinitis (SAR). SAR is a common allergic disorder characterized by episodes of sneezing, rhinorrhea, and swelling of the nasal mucosa
+The MAF1 locus encodes multiple tandemly duplicated paralogs that vary in expression, sequence and copy number across T.gondii strains (PubMed:26920761). For instance, type I strain GT1 has 6 copies, type I strain RH has 4 copies, type II strains ME49 and PRU have 4 copies, type III strain VEG has 4 copies and type III strain CTG has only 2 copies (PubMed:26920761). The paralogs are classified into two groups, a and b and have probably arisen from the neofunctionalization of an ancestral MAF1 a gene (PubMed:26920761). They are characterized by the presence or absence of a repetitive stretch of 4 to 7 prolines followed by a serine (P(4:7)S), as well as differences in the amino acids surrounding the proline motif (PubMed:26920761). This motif is either completely missing (a and b0 paralogs) or repeated up to six times (b paralogs) (PubMed:26920761). Across the strains, transcript levels for the a paralogs are similar, however, in type II strain ME49, transcript levels for the b paralogs are low and no paralog MAF1 b1 protein is produced (PubMed:26920761). Paralogs differ in their ability to mediate host mitochondrial association (HMA), but also in their ability to confer a selective advantage during infection in a mouse model (PubMed:26920761, PubMed:29505111). Tachyzoites from type I and III strains associate with host mitochondria (HMA(+)), while tachyzoites from type II strains, such as ME49, do not associate with host mitochondria (HMA(-)) due to a lack of MAF1 b1 expression (PubMed:26920761)
+There are several alleles. The sequence shown is that of IMGT allele IGKV1D-16*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV26-2*01
+Strains C57BL/6J, C57BR/cdJ, C57L/J, C57BL/10J and C58/J carry the R187X allele, in which a polymorphism generates a premature stop codon, leading to either a truncated protein or an alternatively spliced isoform 3
+There are three common APOE alleles identified: APOE*2/APOE-epsilon2/E2, APOE*3/APOE-epsilon3/E3, and APOE*4/APOE-epsilon4/E4. The corresponding ApoE2, ApoE3 and ApoE4 isoforms differentially present Cys and Arg residues at positions 130 and 176. The most common allele in the human population is APOE*3 which sequence is the one displayed in that entry with a Cys at position 130 and an Arg at position 176. Common APOE variants influence lipoprotein metabolism in healthy individuals. Additional variants have been described and are described relative to the three common alleles. Allele APOE*4 is strongly associated with risk for severe COVID-19, increases susceptibility to SARS-CoV-2 infection in neurons and astrocytes (PubMed:33450186)
+Four electrophoretic alleles are know to exist, they are designated A (shown here), B, C and D
+There are several alleles. The sequence shown is that of IMGT allele IGKV2-30*01
+SLC4A1 is responsible for the Diego blood group system [MIM:110500]. The molecular basis of the Di(a)=Di1/Di(b)/Di2 blood group antigens is a single variation in position 854; Leu-854 corresponds to Di(a) and Pro-854 to Di(b). The molecular basis of the Wr(a)=Di3/Wr(b)/Di4 blood group antigens is a single variation in position 658; Lys-658 corresponds to Wr(a) and Glu-658 to Wr(b). The blood group antigens Wd(a)=Di5 (Waldner-type) has Met-557; Rb(a)=Di6 has Leu-548 and WARR=Di7 has Ile-552
+SLC4A1 is responsible for the Swann blood group system (SW) [MIM:601550]. Sw(a+) has a Gln or a Trp at position 646 and Sw(a-) has an Arg
+SLC4A1 is responsible for the Froese blood group system (FR) [MIM:601551]. FR(a+) has a Lys at position 480 and FR(a-) has a Glu
+Genetic variations in SLC4A1 are involved in resistance to malaria [MIM:611162]
+This sequence corresponds to the wild-type form. A truncated allele, allele A (AC J7FCF0), is linked to the ability to perform alternate gaits, which can be either pace or four-beat ambling gaits. The allele A sequence (AC J7FCF0) has a favorable effect on harness racing performance and on the diversification of the domestic horse, as the altered gait characteristics of a number of breeds apparently require this mutation. Homozygosity for the mutation is required, but not sufficient for pacing, as many Standardbred trotters and some Icelandic horses that are homozygous for this mutation do not pace. The allele A is not found in the following horse populations: Arabian horse, Gotland pony, North-Swedish draft horse, Przewalski's horse, Shetland pony, Swedish ardennes, Swedish warmblood and Thoroughbred
+There are several alleles. The sequence shown is that of IMGT allele TRBV30*01
+The polymorphisms in strain SJL/J may be associated with severity of clinical symptoms of experimental allergic encephalomyelitis, an animal model of multiple sclerosis, and susceptibility to the monophasic remitting/nonrelapsing form of the disease
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-2*04
+Both variants Ser-710 and Thr-710 are phosphorylated at this position
+Genetic variations in HHIP define the stature quantitative trait locus 12 (STQTL12) [MIM:612224]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits
+There are several alleles. The sequence shown is that of IMGT allele IGLC6*01 that is not represented on the reference genome assembly (GRCh38/hg38) and that is the only functional. The other existing alleles are pseudogenes. The sequence shown on the reference genome assembly (GRCh38/hg38) is that of IMGT allele IGLC6*05 that is a pseudogene due to a stop codon polymorphism at position 71
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-33*01
+Several isoforms of the inactive tetrahydrocannabinolic acid synthase found in the 'fiber-type' cannabis plants exist due to polymorphism
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-69-2*01
+Homozygotes with ICAM1-Kalifi Met-56 seem to have an increased risk for cerebral malaria [MIM:611162]
+Alleles B1 and B2 are shown, a polygyne population from Brazil
+Genetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol [MIM:610251]. Allele ALDH2*2 is associated with a very high incidence of acute alcohol intoxication in Orientals and South American Indians, as compared to Caucasians
+At least 5 different SAA1 alleles have been described: SAA1.1 (SAA1alpha), SAA1.2 (SAA1beta), SAA1.3 (SAA1gamma), SAA1.4 (SAA1delta), SAA1.5 (also named SAA1beta but which differs from SAA1.2). We use here the revised nomenclature described in PubMed:10211414. The sequence shown is that of SAA1.1
+Genetic variations in NOS2 are involved in resistance to malaria [MIM:611162]
+A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560)
+There are two alleles, A and B. Allele A has Arg-162 and Val-304. Allele B has Gly-162 and Met-304
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-69D*01
+Polymorphism at position 11 acts synergistically with different mutations in AGXT producing specific enzymatic phenotypes in HP1 patients. The combined presence of Leu-11 and Met-340 polymorphisms defines the minor AGXT allele, whereas their absence defines the major allele. The minor allele has frequencies of 20% in normal European and North American populations, and 50% in HP1 patients
+Genetic variations in DRD2 may determine the genetic susceptibility to alcoholism [MIM:103780]. Genetic variations in DRD2 might be a protective factor against the development of withdrawal symptoms but might also be a risk factor in a highly burdened subgroup of alcoholics with a paternal and grandpaternal history of alcoholism and might contribute to suicide risk in alcoholics
+There are several alleles. The sequence shown is that of IMGT allele TRAV12-1*01
+Genetic variations in CYBRD1 may act as modifier of iron overload expression and account for the variance observed in serum ferritin levels in patients with hereditary hemochromatosis
+Three OR2J2 alleles are known: 6M1-6*01, 6M1-6*02 and 6M1-6*03. The sequence shown is that of allele 6M1-6*01
+Genetic variants in the IMPDH2 gene are responsible for the large inter-individual variability in enzyme activity and may influence immunosuppressive efficacy and side effects in transplant recipients receiving mycophenolic acid [MIM:617995]
+91-R, Hikone-R, WC2 and Wisconsin are insecticide resistant strains, 91-C, Canton-S and Oregon-RC are insecticide susceptible. Cyp6g1 is more highly expressed in the resistant strains
+There are four main allelic forms of this protein; F13A*1A, F13A*1B, F13A*2A and F13A*2B. In addition two other intermediate forms (F13A*(2)A and F13A*(2)B) seem to exist. The sequence shown is that of F13A*1B
+There are several alleles. The sequence shown is that of IMGT allele TRBV7-4*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV1-2*01
+Genetic variations in PSCA may influence susceptibility to some cancers. A polymorphism gives rise to an upstream methionine which produces a longer protein of 123 residues associated with various cancers including diffuse-type gastric cancer and urinary bladder cancer
+Polymorphism in ABCC11 is associated with variation in apocrine gland secretion [MIM:117800]. This determines different ear wax phenotypes, presence or absence of axillary odor, and variation in colostrum secretion. Characteristic of earwax and strength of axillary odor are most likely interconnected. Human earwax is a Mendelian trait consisting of wet and dry types. The wet earwax is brownish and sticky, whereas the dry type lacks cerumen. The wet cerumen phenotype is completely dominant. The dry type is seen frequently (80-95%) among East Asians, but uncommon (0-3%) in populations of European and African origins. Intermediate frequencies (30-50%) of the dry type are seen in populations of Southern Asia, the Pacific Islands, Central Asia and Asia Minor, as well as among the Native North American and Inuit of Asian ancestry. The allele with Arg-180 is responsible for the dry earwax phenotype and lack of axillary odor
+There are several alleles. The sequence shown is that of IMGT allele TRBV14*01
+There are several alleles. The sequence shown is that of IMGT allele IGHV4-61*01
+There are two allelic forms (A and B) (PubMed:1306120)
+The sequence varies across Plasmodium strains (PubMed:3293051). All variants share conserved N- and C-terminal regions; however, they belong to two allelic families, represented by 3D7 strain and FC27 strain sequences respectively, distinguished by tandem repeats and dimorphic flanking sequences within the central region of the protein (PubMed:3293051)
+There are several alleles. The sequence shown is that of IMGT allele IGLV2-33*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV11-3*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV1-1*01
+The following alleles of DMB are known: DMB*01:01, DMB*01:02, DMB*01:03, DMB*01:04 (DMB3.4), DMB*01:05, DMB*01:06, and DMB*01:07. The sequence shown is that of DMB*01:03
+A polymorphism in the MDM2 promoter is associated with susceptibility to accelerated tumor formation in both hereditary and sporadic cancers [MIM:614401]. It also contributes to susceptibility to Li-Fraumeni syndrome, in patients carrying a TP53 germline mutation
+Polymorphic variations define TPMT activity levels that are variable among ethnic groups. 90% of Caucasians have high TPMT activity, 10% have intermediate activity, and 1 in 300 individuals has low activity (PubMed:10208641). These differences influence the clinical use and therapeutic efficacy of thiopurine drugs, generally used as immunosuppressants or cytotoxic drugs in conditions including leukemia, autoimmune disease and organ transplantation. Intermediate or low TPMT activity is associated with thiopurine intolerance and patients are at risk of toxicity after receiving standard doses of thiopurine drugs [MIM:610460] (PubMed:10751626, PubMed:15819814, PubMed:16220112, PubMed:16476125, PubMed:16789994, PubMed:7862671, PubMed:8561894, PubMed:8644731, PubMed:9246020, PubMed:9336428, PubMed:9711875, PubMed:9931345, PubMed:9931346). The most prevalent TPMT alleles associated with TPMT deficiency are TPMT*2 and TPMT*3A. The proteins encoded by TPMT*2 and TPMT*3A mutant are degraded more rapidly by an ATP-dependent proteasome-mediated pathway (PubMed:9177237, PubMed:8644731)
+TPMT*3A is the most common allele in the Caucasians and American Caucasians; it is the only mutant allele found in the South West Asians; it is not found in the Chinese. TPMT*3C is common in African-Americans and is the only allele in Chinese, Japanese and Taiwanese individuals. This allele is found at a low frequency in the Caucasians. This suggests that TPMT*3C is the oldest mutation, with TPMT*3B being acquired later to form the TPMT*3A allele in the Caucasian and South West Asian populations. TPMT*2 appears to be a more recent allele, which has only been detected in Caucasians to date
+The poly-Ala region seems to be polymorphic and the number of Ala varies between 4 and 6
+A common polymorphism arises from a variable number of hexanucleotide repeat sequence within the signal peptide region
+Ly-17 alloantigenic system involves residues 116 and 161. Ly-17.1 mice are Pro-116 and Glu-161; Ly-17.2 mice are Leu-116 and Leu-161. These polymorphisms do not affect IgG binding
+There are several alleles. The sequence shown is that of IMGT allele TRAV9-1*01
+The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 125 in the reference genome, giving rise to a truncated protein (Csp12-S) (PubMed:15129283, PubMed:16917906). The sequence shown in this entry is that of variant p.Ter125Arg. This variant gives rise to a full length protein (Csp12-L). It occurs in the human population at a frequence of about 4% according to the Genome Aggregation Database (gnomAD v3.1.2), with highest frequency observed in people of African descent (up to 60% in certain sub-Saharan populations) (PubMed:15129283, PubMed:16917906, PubMed:16532395). Csp12-L expression may increase the susceptibility to severe sepsis, and may result in higher mortality rates (up to 3-fold) once severe sepsis develop (PubMed:15129283)
+Allele shown represents B1, B2 and B3, a monogyne population from USA and B1, a monogyne population from Argentina
+There seems to be five variants of IFN-tau 3: A (shown here), B, C, D and E
+Common alleles GBGT1*01N.01 and GBGT1*01N.02 do not synthesize Forssman glycolipid antigen (FORS1). A rare allele encoding an arginine to glutamine change at residue 296 is associated with the ability to synthesize Forssman antigen, which is expressed in erythrocytes and is inheritable, thus defining a new histo-blood group FORS, also known as Apae. This variation might have arised as a consequence of the selective pressure exerted by microorganisms. For instance, the uropathogenic E.coli expressing prsG adhesin only binds and agglutinates FORS1-expressing erythrocytes. Thus, FORS1-positive individuals might be more susceptible to certain pathogens
+Strain C57BL/6 preferentially expresses isoform 1 while strains BALB/c and C3H/HeJ preferentially express isoform 2. This is due to a single nucleotide difference at the second splice acceptor site in exon 13 which results in production of isoform 2 when this splice site is used in strains BALB/c and C3H/HeJ
+Genetic variations in CTLA4 are associated with susceptibility to several autoimmune disorders (PubMed:18595775, PubMed:12724780, PubMed:10189842, PubMed:10924276, PubMed:15138458, PubMed:15657618, PubMed:15688186, PubMed:25329329, PubMed:25213377). They influence responsiveness to hepatitis B virus (HBV) infection [MIM:610424] (PubMed:15452244)
+A probable gain-of-function mutant of OR gene confers the accumulation of high levels of beta-carotene in various tissues normally devoid of carotenoids, converting the white color of curd tissue into the distinct orange color. Hybrid OR cauliflower containing large amounts of beta-carotene is commercially available
+There are 3 alleles. The sequence shown is that of alpha-1
+Several EPAS1 intronic variants have been identified, forming a unique haplotype in Tibetans, which has been proposed to allow them to thrive in a low-oxygen environment. The high-altitude adaptive haplotype is thought to have originated from Denisovans
+The following alleles of DOB are known: DOB*01:01, DOB*01:02, DOB*01:03 and DOB*01:04. The sequence shown is that of DOB*01:01
+The variations in positions 5 and 280 are associated with the expression of the winter white coat phenotype
+There are several alleles. The sequence shown is that of IMGT allele IGLV8-61*01
+Although found in NIDDM patients, genetic variations of HK2 do not contribute to the disease (PubMed:7883122, PubMed:7883123)
+There are several alleles. The sequence shown is that of IMGT allele TRBV6-4*02
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-3*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV30*01
+There are at least 4 different haplotypes in the human population. The allele A3H-var/haplotype 2 encodes a more stable protein which is able to block HIV-1 replication. The displayed allele (haplotype 1) is unstable and inefficient to block HIV-1 replication
+Genetic variations in ADIPOQ influence the variance in adiponectin serum levels and define the adiponectin serum levels quantitative trait locus 1 (ADIPQTL1) [MIM:612556]
+Genetic variations in CCL2 determine Mycobacterium tuberculosis susceptibility [MIM:607948]
+Genetic variations in G6PC2 define the fasting plasma glucose levels quantitative trait locus 1 (FGQTL1) [MIM:612108]. The normal fasting plasma glucose level in the plasma is defined as less than 100 mg per deciliter (5.55 mmol per liter). Higher fasting plasma glucose levels predict type 2 diabetes in young adults and increases the risk of mortality
+At least 6 alleles of SFTPA2 are known: 1A, 1A(0), 1A(1), 1A(2), 1A(3) and 1A(4). The sequence shown is that of allele 1A(2)
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-66*03
+Genetic variations at the FTO locus define the body mass index quantitative trait locus 14 (BMIQ14) [MIM:612460]. Variance in body mass index is a susceptibility factor for obesity
+There are several alleles. The sequence shown is that of IMGT allele TRBV13*01
+Val-250 variation may influence aminoglycoside-induced deafness (AID) [MIM:580000]. AID is characterized by deafness, varying from profond congenital hearing loss to normal hearing, and is caused by homoplasmic A1555G mutation in the mitochondrial 12S rRNA. Val-250 may affect the accuracy of codon-anticodon interaction, leading to modulate the translational efficiency and thereby affecting the severity of deafness in patients homozygous for 12S rRNA A1555G mutation
+There are several alleles. The sequence shown is that of IMGT allele TRBV7-8*01
+Genetic variations in HMGA2 define the stature quantitative trait locus 9 (STQTL9) [MIM:611547]. Human height is a classic, highly heritable quantitative trait
+There are two forms of NAT2: a rapid/stable isoform (Asn-99) and a slow/unstable isoform (Ile-99)
+There are two defensin C isoforms, C1 and C2 (shown here)
+XG is responsible for the Xg blood group system
+Carriers of the polymorphic Gln-399 allele may be at greater risk for tobacco- and age-related DNA damage
+There are several alleles. The sequence shown is that of IMGT allele TRBV5-6*01
+Two variants (Adamts13L and Adamts13S) were isolated that differed in the insertion of an intracisternal A particle (IAP) retrotransposon including a premature stop at the position 1036. In Adamts13S the C-terminal two TSP type-1 and two CUB domains are replaced with a 16-amino acid sequence derived from the IAP, this variant exhibited vWF cleaving activities in vitro. The IAP insertion is strain-specific and is found in BALB/c, C3H/He, C57BL/6 and DBA/2 strains, but not in the 129/Sv strain
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-8*01
+The OKT monoclonal antibodies are widely used for the analysis of human peripheral blood T-lymphocytes. OKT4 reacts with T-helper/inducer lymphocytes. The OKT4 epitope of the CD4 cell-surface protein is polymorphic in white, black, and Japanese populations. The variable phenotypic expression is due a CD4 polymorphism. OKT4 positive individuals carry Arg-265 and OKT4 negative individuals carry Trp-265 [MIM:613949]
+Genetic variation in KCNMB1 can influence the severity of diastolic hypertension (PubMed:15057310)
+There are several alleles. The sequence shown is that of IMGT allele TRAV24*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV10-3*01
+Length polymorphisms exist between different strains, most likely caused by length variations within the tandem repeats
+In some individuals a nonsense mutation transforms either Ser-39 or Arg-140 into a premature stop codon. GPR33 has undergone independent pseudogenization in human, chimpanzee, orangutan and rat. This selective inactivation may be due to its interaction with a putative pathogen that could use GPR33 as a receptor for cell invasion
+A stop codon at position Gln-55 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in African-Americans than in non-Africans
+A homozygous transition at position 1 of intron 3 of APOA2 results in deficiency of apolipoprotein A-II, without significant influence either on lipid and lipoprotein profiles or on the occurrence of coronary artery disease [MIM:107670]
+Segregating pseudogene, locus showing both intact and pseudogene forms in the population. This gene is a pseudogene on the reference genome but has been found to be protein coding in some individuals
+A frameshift variant at position 997 (p.Asn977LysfsTer110) has been shown to cosegregate with the king coat pattern, a rare phenotype in which spots coalesce into blotches and stripes. This polymorphism was not detected in almost 220 spotted cheetahs
+The most frequent variant has a stop codon instead of Cys-15, giving rise to a truncated protein and is represented on the reference genome assembly (GRCh38/hg38). The variant Cys-15 is rare, except in some populations from Africa and non-Finnish Europa. The sequence shown is rare and is not represented on the reference genome assembly (GRCh38/hg38)
+Genetic variations in UCP2 define the body mass index quantitative trait locus 4 (BMIQ4) [MIM:607447]. A common polymorphism in the promoter of UCP2 has been shown to be associated with a decreased risk of obesity in middle-aged individuals
+The allele with Cys-145/Val-311 shows a three- to five-fold decrease in catalytic efficiency for xenobiotic and steroidal substrates compared to the Ser-145/Leu-311 allele
+Genetic variations in FUT1 define the H blood group and are responsible for the Bombay and para-Bombay phenotypes [MIM:616754]. Erythrocytes from individuals with the Bombay and para-Bombay blood group phenotypes are deficient in H antigens
+Polymorphism dbSNP:rs10774671 is associated with protection against severe COVID-19 disease (PubMed:34581622, PubMed:33633408). In humans, the OAS1 protein is expressed as two major forms designated p46 and p42. The longer p46 isoform is generated by alternative splicing to an exon downstream of the terminal exon used by the p42 isoform. Although all human genotypes contain the exon that completes the transcript encoding p46, an intronic SNP (rs10774671) determines OAS1 exon usage. Alleles with a G at this SNP (G alleles) specify expression of the p46 isoform and some p42, whereas alleles with A at this position predominantly encode the p42 isoform and cannot express the p46 isoform (PubMed:34581622). The p42 isoform, which is the most common isoform in humans (~61% of alleles), has no detectable anti-SARS-CoV-2 activity. The p46 isoform has anti-SARS-CoV-2 activity (PubMed:34581622)
+A stop codon at position Arg-236 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene
+Genetic variations in WWC1 define the memory quantitative trait locus (MEMRYQTL) [MIM:615602]
+A single nucleotide deletion at position Met-205 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene
+Was sequenced in many cultivars; Ag-0, Bl-1, Bus-1, Ci-0, Cvi-0, Dra-0, Edi-0, Hau-0, Hiroshima, In-0, Ita-0, Kas-1, Mr-0, Nok-4, Ost-0, Pog-0, Rou-0, Su-0, Ts-1 and Ws-0
+There are several alleles. The sequence shown is that of IMGT allele IGKV2D-24*01
+ACHE is responsible for the Yt blood group system [MIM:112100]. The molecular basis of the Yt(a)=Yt1/Yt(b)=Yt2 blood group antigens is a single variation in position 353; His-353 corresponds to Yt(a) and the rare variant with Asn-353 to Yt(b)
+Position 161 is associated with platelet-specific alloantigen Siba (PubMed:1586750). Siba(-) has Thr-161 and Siba(+) has Met-161 (PubMed:1586750). Siba is involved in neonatal alloimmune thrombocytopenia (NATP) (PubMed:1586750, PubMed:7632942)
+Polymorphisms arise from a variable number of tandem 13-amino acid repeats of S-E-P-A-P-S-P-T-T-P-E-P-T in the mucin-like macroglycopeptide (Pro/Thr-rich) domain (PubMed:1577776, PubMed:7632942). Allele D contains one repeat starting at position 415, allele C contains two repeats, allele B (shown here) contains three repeats and allele A contains four repeats (PubMed:1577776). Allele B is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy (PubMed:1577776)
+Two alleles, COMT*1 or COMT*H with Val-158 and COMT*2 or COMT*L with Met-158 are responsible for a three to four-fold difference in enzymatic activity
+Low enzyme activity alleles are associated with genetic susceptibility to alcoholism [MIM:103780]
+Allele B is shown, polygyne population from Argentina and allele B2, a monogyne population from Argentina
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-73*02
+There are several alleles. The sequence shown is that of IMGT allele IGHV4-30-4*01
+FCGR2B polymorphisms can influence susceptibility or resistance to malaria [MIM:611162]
+The sequence shown is that of IMGT allele IGLJ1*01
+The sequence varies across Plasmodium strains (PubMed:1542312). All variants share conserved N- and C-terminal regions; however, they belong to two allelic families, represented by 3D7 strain and FC27 strain sequences respectively, distinguished by tandem repeats and dimorphic flanking sequences within the central region of the protein (PubMed:1542312)
+The complement component C4 is the most polymorphic protein of the complement system. It is the product of 2 closely linked and highly homologous genes, C4A and C4B. Once polymorphic variation is discounted, the 2 isotypes differ by only 4 amino acids at positions 1120-1125: PCPVLD for C4A and LSPVIH for C4B. The 2 isotypes bear several antigenic determinants defining Chido/Rodgers blood group system [MIM:614374]. Rodgers determinants are generally associated with C4A allotypes, and Chido with C4B. Variations at these loci involve not only nucleotide polymorphisms, but also gene number and gene size. Some individuals may lack either C4A, or C4B gene. Partial deficiency of C4A or C4B is the most commonly inherited immune deficiency known in humans with a combined frequency over 31% in the normal Caucasian population (PubMed:11367523). C4A6 allotype is deficient in hemolytic activity. Allotype C4A13 is infrequent. Common copy-number variants of C4A and C4B affecting expression of complement component C4 in the brain have been associated with schizophrenia risk (PubMed:26814963)
+Nlrp1a gene is extremely polymorphic. 5 alleles have been described: 1 (AC D9I2F9), 2 (AC D9I2G3), 3 (this entry), 4 (AC D9I2G1) and 5 (AC D9I2G4)
+CISH polymorphisms are involved in susceptibility to malaria [MIM:611162]
+Genetic variations in CISH are involved in susceptibility to tuberculosis [MIM:607948]
+Genetic variations in CISH are associated with susceptibility to bacterial invasion of the blood and define the bacteremia susceptibility locus 2 (BACTS2) [MIM:614383]
+Variants Ala-113 and Gln-226 exhibit a reduced ability to smell C3HEX [MIM:615082]. When both variants are present in the same haplotype (allele 6M1-3*02), the response to C3HEX is abolished. African populations have a higher proportion of the C3HEX-nonresponsive haplotype than other populations. All haplotypes containing Gln-226 show low levels of surface expression
+A variant of this gene has been observed in several 129 substrains, including 129/SvJ, 129S1/Sv, 129P3/J and 129S6/SvEvTac. This variant displays a 5-bp deletion encompassing the exon 7 splice acceptor junction. As a result, exon 7 is spliced out. Joining of exon 6 to exon 8 creates a frameshift after Pro-304 and a stop codon occurs after 5 aberrant amino acids. The mRNA may be the target of nonsense-mediated mRNA decay. It is detected only at low levels, while the corresponding protein is not detected at all in any of the 129 substrains tested
+There are several alleles. The sequence shown is that of IMGT allele IGKV1-37*01
+There are several alleles. The sequence shown is that of IMGT allele IGHV1-45*02
+There are several alleles. The sequence shown is that of IMGT allele TRAV13-2*01
+Nlrp1b gene is extremely polymorphic. 5 alleles have been described in 18 inbred strains: 1 (AC Q2LKW6), 2 (this entry), 3 (AC Q2LKV5), 4 (AC Q2LKV2) and 5 (AC Q0GKD5). These alleles define susceptibility to B.anthracis lethal toxin (LT). Alleles 2 (carried by A/J, C57BL/6J and I/LnJ), 3 (AKR/J, NOD/LtJ and SJL/J) or 4 (DBA/2J, P/J and SM/J) are not activated by LT. Alleles 1 (carried by 129S1/SvImJ, BALB/cJ, C3H/HeJ, CBA/J, FVB/NJ, NON/ShiLtJ, NZO (NZO/HlLtJ) and SWR/J strains) and 5 (CAST/EiJ) confer macrophage susceptibility to LT. In susceptible strains, infection by Bacillus anthracis leads to IL1B release, neutrophil recruitment and macrophage pyroptosis. This early inflammatory response confers increased resistance to infection (PubMed:16429160). The sequence shown in this entry is that of allele 2 (PubMed:16429160)
+There are several alleles. The sequence shown is that of IMGT allele IGLV3-22*01
+In strains 129/Sv, B10.RIII and C57BL/6, a polymorphism causes a frameshift and premature truncation of the protein, rendering it inactive. Strains BALB/c, C3H/He, DBA/1, DBA/2, MRL and NZB/B1N contain the normal protein while strain CD-1 is heterozygous for the mutation
+The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a variant (called allele 'A') in the reference genome which abolishes the intron 1 donor splice site, leading to the loss of CD300H transcripts and consequently loss of protein. The variant shown in this entry (NM_001324073.1:c.61+1A>G, rs905709) restores the splicing of intron 1 and protein expression (PubMed:26221034). This variant is common in the human population with a frequency of about 62% according to the Genome Aggregation Database (gnomAD v3.1.2)
+The frequencies of the Cys-257 allele in white, black, Hispanic, and Asian individuals are 1.9%, 14.4%, 5.8%, and 7.7%, respectively. The Cys-257 variant is 37 to 56% less active than the wild-type Arg-257 protein toward all substrates tested
+There are two alleles. The sequence shown is that of alpha-II
+The poly-Gln region of AR is highly polymorphic and the number of Gln varies in the population (from 17 to 26). A smaller size of the poly-Gln region may be associated with the development of prostate cancer. Long poly-Gln alleles (>23) may be associated with higher testosterone levels and severe clinical outcome in COVID-19 disease (PubMed:33647767)
+The poly-Gly region of AR is polymorphic and ranges from 24 to 31 Gly. A poly-Gly region shorter or equal to 23 may be associated with the development of androgenetic alopecia
+There are several alleles. The sequence shown is that of IMGT allele TRGV4*02
+There are several alleles. The sequence shown is that of IMGT allele TRDC*01
+Polymorphic for two allelic forms in natural populations of Drosophila melanogaster, ref(2)Po and ref(2)Pp. The latter allele confers resistance to the rhabdovirus sigma infecting wild populations
+There are several alleles. The sequence shown is that of IMGT allele IGLC7*03
+Genetic variation in SLC11A1 is associated with susceptibility to infection with Mycobacterium ulcerans [MIM:610446]
+Genetic variations in SLC11A1 determine Mycobacterium tuberculosis susceptibility [MIM:607948]
+4 common alleles are officially recognized: TAP2*01:01 (TAP2A or PSF2A or RING11A), TAP2*01:02 (TAP2E), TAP2*01:03 (TAP2F), and TAP2*02:01 (TAP2B or PSF2B or RING11B). Other relatively common alleles have been identified: TAP2*01D, TAP2*01E, TAP2*01F, TAP2*01G, TAP2*01H, TAP2*02B, TAP2*02C (TAP2*02:02), TAP2*02D, TAP2*02E, TAP2*02F, TAP2*03A and TAP2*04A. The sequence shown is that of TAP2*01:01
+The allele TAP2*Bky2 is commonly found only in the Japanese population. It may be associated with susceptibility to Sjoegren syndrome, an autoimmune disorder characterized by abnormal dryness of the conjunctiva, cornea and mouth due to exocrine glands dysfunction
+Alleles A, B and C are highly divergent forms of Klrb1b. Alleles A and B differ in their susceptibility to evasion of innate immunity by the rat cytomegalovirus (CMV). In contrast to allele B, allele A shows very low binding of a viral protein mimicking the Klrb1b ligand CLEC2D as well as low susceptibility to this MHC class I-independent viral evasion mechanism
+Genetic variations in MC3R define the body mass index quantitative trait locus 9 (BMIQ9) [MIM:602025]. Variance in body mass index is a susceptibility factor for obesity
+Genetic variations in ABO define the ABO blood group system [MIM:616093]. The ABO blood group system is the most important blood group system in blood transfusion. The sequence shown here is that of the A transferase. The B form differs by a few residues substitution. Residues 266 and 268 are important for specificity. The reference genome assembly (GRCh38/hg38) describes a non-functional O-type ABO allele. The O-type ABO allele results in a guanine deletion (NM_020469.2: c.286delG). This deletion induces a frameshift and creates a premature stop codon resulting in a truncated (117 amino acids) protein deprived of any glycosyltransferase activity (PubMed:2333095)
+Virtually all natural populations of this species are polymorphic for 2 electrophoretically distinguishable alleles, Adh-S and Adh-F (PubMed:6789320, PubMed:6410283, PubMed:1673107, PubMed:1683848, Ref.12, PubMed:12537569, Ref.18, PubMed:6821373, PubMed:6780981). The sequence of the Adh-S allele is shown (PubMed:6789320, PubMed:6410283, PubMed:1673107, Ref.12, PubMed:12537569, Ref.18, PubMed:6821373). Other naturally occurring alleles include Adh-JA-F, Adh-AF-S, Adh-F-CHD, Adh-71K, Adh-UF and Adh-F' (PubMed:3021568, PubMed:3137352, PubMed:2124644, PubMed:6789328, PubMed:115502, PubMed:6821373). Artificially induced mutations include Adh-NB, Adh-NLA248, Adh-N4 and Adh-N11 (PubMed:6818527, PubMed:3928896, PubMed:3108863, PubMed:6821373, PubMed:2419573)
+Polymorphic variation at position 148 influences insulin secretion levels and obesity. In obese subjects the body mass index and waist are higher in carriers of the Ile-148 allele. The Ile-148 carriers also display decreased insulin secretion in response to oral glucose tolerance test. Met-148 allele carriers are seemingly more insulin resistant at a lower body mass index
+Two main alleles are known, ADH3*1 or gamma-1 has Arg-272/Ile-350 while ADH3*2 or gamma-2 has Gln-272/Val-350. ADH3*1 is associated with a fast rate of ethanol oxidation and ADH3*2 with a slow rate
+Interstrain analysis reveals that TLR4 is a polymorphic protein and that the extracellular domain is far more variable than the cytoplasmic domain, which is variable at the C-terminal
+There are several alleles. The sequence shown is that of IMGT allele TRAV3*01
+At least two different alleles are known
+Sequence shown is that of allele PRH1-PIF, which is the most frequent allele (68% of the population). The PRH1-DB allele (about 16% of the population) has an insertion of 21 repeated amino acids compared to the PRH1-PIF allele. Allele PRH2-2, also known as PR-2, allele PRH2-1 is also known as PR-1 or protein C, and allele PRH2-3 as PR-1'. In contrast to all other PRH1 and PRH2 alleles, the PRH1-PA allele (16%) is not proteolytically cleaved
+Individuals with blood hypertension and a SLC35F3 risk allele T/T homozygosity (intronic variant rs17514104) show a significant reduction in blood thiamine content
+Cv. Adb-0, cv. Ag-0, cv. Ang-0, cv. Bla-10, cv. Bs-1, cv. Bur-0, cv. Cal-0, cv. Cnt-1, cv. Columbia, cv. Di-1, cv. Edi-0, cv. Ei-2, cv. Ema-1, cv. Et-0, cv. Ge-0, cv. Lc-0, cv. Lo-2, cv. Mir-0, cv. Mrk-0, cv. Mt-0, cv. Pog-0, cv. Rd-0, cv. Rou-0, cv. Sf-1, cv. Tac-0, cv. Wei-0 and cv. Yo-0 contain a leaf- and seed-functional allele. Cv. Di-0, cv. Kas-1, cv. Lip-0, cv. Landsberg erecta, cv. Sha, cv. Sorbo, cv. Tsu-1 and cv. Wassilewskija contain a seed-only-functional allele. Cv. Cvi-0, cv. Hodja-Obi-Garm and cv. Kon contain a null allele. The null allele in cv. Cvi-0 is produced by 5 amino acid substitutions while the one in cv. Kon or cv. Hodja-Obi-Garm is produced by a substitution generating a stop codon at position 132
+Deletion of Gln-402 is frequent
+The poly-Ala stretch (positions 24 to 31) may be polymorphic and varies from 6 to 8 Ala residues
+ERMAP is responsible for the Scianna/Radin blood group system which comprises seven different antigens (PubMed:12393480). The Sc1 and Sc2 antigens are resulting from a single variation in position 57; Arg-57 corresponds to the Sc2 antigen and Gly-57 to the Sc1 antigen. The Sc2 antigen is rare with an occurrence of less than 1% in the population while Sc1 is more frequent. Sc3 is not expressed by individuals homozygous for a null allele encoding a truncated protein lacking its extracellular part (Sc-3). The Sc4 antigen corresponding to the previously defined Radin blood group antigen (Rd) is due to a single variation in position 60; Ala-60 corresponds to Sc4/Rd(+), the antigenic form of the protein. Sc4 is found in less than 1% of the population. Sc5/STAR, Sc6/SCER and Sc7/SCAN antigens are due to single variations in positions 47, 81 and 35 respectively. Alloantibodies to the low frequency Sc2 and Sc4 antigens are the cause of hemolytic disease in the newborn (PubMed:15660834, PubMed:16371048)
+There are several alleles. The sequence shown is that of IMGT allele IGLV2-11*01
+The antigenic allele of P198 differs from the normal allele by a single mutation. The TUM- mutation P198 generates a new epitope recognized by syngeneic T-cells
+The poly-Gln region of Atn1 is polymorphic (3 to 8 repeats)
+There are several alleles. The sequence shown is that of IMGT allele IGKV1-33*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV5-5*01
+The polymorphism at position 583 is found in strains SHR, SHRSP and Wistar Kyoto which are both hypertensive and sitosterolemic. Strains which are hypertensive but not sitosterolemic do not contain a polymorphism at this position
+There are two alleles (F1 and F2), F2 has Asp-104 and F1 has Asn-104. Mice are completely tolerant to the self form of the protein, but make a good antibody response to immunization with the non-self form
+There is a common allele, ADA*2, also known as the ADA 2 allozyme. It is associated with the reduced metabolism of adenosine to inosine. It specifically enhances deep sleep and slow-wave activity (SWA) during sleep
+The sequence varies across Plasmodium strains (PubMed:2181307). All variants share conserved N- and C-terminal regions; however, they belong to two allelic families, represented by 3D7 strain and FC27 strain sequences respectively, distinguished by tandem repeats and dimorphic flanking sequences within the central region of the protein (PubMed:2181307)
+There are several alleles. The sequence shown is that of IMGT allele IGLV5-37*01
+There are several alleles. The sequence shown is that of IMGT allele |TRBV10-1*02
+The number of repeats in the tandem repeat domain is shown to vary between 3 and 9 per allele thus contributing to a further variability in addition to alternative splicing. The shown 7 repeat-containing form has been shown to be the most frequent one (53.9%) in a study with 350 Caucasian individuals
+There is an association between a polymorphism in position 1675 and prostate cancer. Heterozygous Asn-1675 individuals have a 2.5 times increased chance of developing prostate cancer as compared with homozygous Asp-1675 individuals
+Two codominant alleles of factor H are present in mice
+Genetic variations in HBB are involved in resistance to malaria [MIM:611162]. Hemoglobin S (Hb S), which at homozygosity is responsible for sickle cell anemia, is not associated with any clinical abnormality when heterozygous. At heterozygosity, Hb S confers an increase in protection from life-threatening malaria. Additional variants conferring resistance against severe malaria are hemoglobin C (Hb C) and hemoglobin E (Hb E)
+Expression appears to be higher in pathogenic strains such as HM-1:IMSS compared to non-pathogenic strains
+The sequence of allele A is shown (PubMed:11167536)
+Genetic variations in FAAH can be associated with susceptibility to polysubstance abuse [MIM:606581]. At homozygosity, variant Thr-129 is strongly associated with drug and alcohol abuse, and methamphetamine dependence
+The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 205 in the reference genome. The sequence shown in this entry is that of variant p.Ter205Tyr, which has a frequency of about 79% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2)
+Eight non disease-associated alleles are known: CYP2F1*1, CYP2F1*2A, CYP2F1*2B, CYP2F1*3, CYP2F1*4, CYP2F1*5A, CYP2F1*5B and CYP2F1*6. The sequence shown corresponds to allele CYP2F1*1
+The strain FVB/NTac displays a selective deficiency for epidermal Vgamma5(+)Vdelta1(+) T-cells due to a mutation that creates premature codon stop at position 324
+Isoform 2 length of the poly-Ala region is variable (6 to 27 CTG/CAG triplets) in the normal population and may be expanded (41 to 58 CTG/CAG triplets) in patients suffering from Huntington disease-like type 2
+There are several alleles. The sequence shown is that of IMGT allele TRAV5*01
+The sequence shown is that of allotype C6 B
+Variation in, or absence of, PINA is associated with variation in grain texture
+There are several alleles. The sequence shown is that of the functional IMGT allele IGHV3-20*01 that is not represented on the reference genome assembly (GRCh38/hg38). The sequence of the reference genome assembly (GRCh38/hg38) is that of IMGT allele IGHV3-20*02 which is considered as an open reading frame (ORF), but presents a mutation at position 41, corresponding to the first cysteine from the disulfide bridge, potentially leading to uncorrect folding
+There are several alleles. The sequence shown is that of IMGT allele TRBV3-1*01
+Genetic variations in IL6 may be correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture
+The Ser-187 polymorphism may be linked to susceptibility to forms of cancers
+The frequency of variant Leu-125 is 0.015 in the Italian breed Sopravissana
+Genetic variants in SLC24A4 define the skin/hair/eye pigmentation variation locus 6 (SHEP6) [MIM:210750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair
+There is evidence that the presence of the rare form of Gln-356-Arg and Leu-871-Pro polymorphisms may be associated with an increased risk for developing ovarian cancer
+Genetic variations in PDLIM4 may be correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture
+The sequence varies across Plasmodium strains (PubMed:1990294). All variants share conserved N- and C-terminal regions; however, they belong to two allelic families, represented by 3D7 strain and FC27 strain sequences respectively, distinguished by tandem repeats and dimorphic flanking sequences within the central region of the protein (PubMed:1990294)
+Berkeley strain has 11 A-A-Q repeats
+There are several alleles. The sequence shown is that of IMGT allele IGKV1D-43*01
+The following alleles of DRA are known: DRA*01:01 and DRA*01:02. The sequence shown is that of DRA*01:02
+The Sd(a) antigen on red blood cells defines the SID blood group system. There is considerable variability in the strength of antigen expression, ranging from ordinary Sd(a+) to strong Sd(a++) expression [MIM:615018]. Lack of Sd(a) antigen results in the Sd(a-) phenotype, due to genetic variants in B4GALNT2
+There are several alleles. The sequence shown is that of IMGT allele IGKV3-11*01
+The roan locus is responsible for the coat coloration of Belgian Blue and Shorthorn cattle. The solid-colored and white animals are homozygotes, and the roan animals, with intermingled colored and white hairs, are heterozygous. The roan phenotype is due to the Asp-218 mutation
+Genetic variations in CLINT1 may contribute to susceptibility to schizophrenia (SCZD1) and psychotic disorders in some populations
+Genetic variations in RNF212 influence recombination rate, designated recombination rate quantitative trait locus 1 (RRQTL1) [MIM:612042]
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-35*01
+There are several alleles. The sequence shown is that of IMGT allele IGLV5-39*01
+The following alleles of DPA1 are known: DPA1*01:03, DPA1*01:04, DPA1*01:05, DPA1*01:06, DPA1*01:07, DPA1*01:08, DPA1*01:09, DPA1*01:10, DPA1*02:01, DPA1*02:02, DPA1*02:03, DPA1*02:04, DPA1*03:01, DPA1*03:02, DPA1*03:03, DPA1*04:01 The sequence shown is that of DPA1*01:03
+Genetic variations in PNPLA2 may influence plasma free fatty acids and triglycerides levels, and fasting glucose concentrations
+A single amino acid substitution of Arg-80 to His abolishes HMA3 cadmium transport activity through the tonoplast in root cells. This allele is found in a number of rice cultivars, and is associated with high accumulation of cadmium in rice grains. Identification of natural allelic variation in HMA3 may facilitate the development of rice varieties with grain cadmium concentrations adapted to dietary needs in function of the cadmium concentration in soil
+Genetic variation in ALAD influences susceptibility to lead poisoning in individuals exposed to high amount of environmental lead. There are two common alleles: allele ALAD*1 and allele ALAD*2 resulting in 3 isozymes: ALAD 1-1, ALAD 1-2, and ALAD 2-2. Individuals with ALAD 1-2 or ALAD 2-2 isozymes have levels of blood lead higher than those in individuals with ALAD 1-1 isozyme. The sequence shown corresponds to allele ALAD*1
+Variant present in the strains cv. PI 595203 confers resistance to zucchini yellow mosaic virus (ZYMV)
+There are four common alleles; AHRB1; AHRB2; AHRB3 and AHRD. The sequence of AHRB2 is shown here
+The coat color of the Alaska silver fox is produced by a constitutively active mutant of this receptor
+New Zealand obese (NZO) mice carry a loss-of-function mutation due to the integration of the retrotransposon IAPLTR1 in intron 3 which generates a truncated mRNA lacking both the KRAB and the C2H2 domains. This strain is less diabetes prone (NZO)
+There are several alleles. The sequence shown is that of IMGT allele TRBV6-3*01
+The sequence shown is that of A3-35. The two clones A3-35 and MQ19-97 represent allelic forms. They differ in their drug sensitivities, possibly because of the difference at position 22
+Allele 2 is much less active than allele 1 and would have probably resulted in mammoths with a substantially lighter hair color
+The allele MC1R-delta-24 is associated with melanistic coat coloration
+The Cys-982 polymorphism may be associated with an increased risk for developing Hirschsprung disease
+There are several alleles. The sequence shown is that of IMGT allele IGKV3D-11*02
+The following alleles of HLA-DQB1 are known: DQB1*02:01, DQB1*02:02, DQB1*02:03, DQB1*02:04, DQB1*02:05, DQB1*03:01, DQB1*03:02, DQB1*03:03, DQB1*03:04, DQB1*03:05, DQB1*03:06, DQB1*03:07, DQB1*03:08, DQB1*03:09, DQB1*03:10, DQB1*03:11, DQB1*03:12, DQB1*03:13, DQB1*03:14, DQB1*03:15, DQB1*03:16, DQB1*03:17, DQB1*03:18, DQB1*03:19, DQB1*03:20, DQB1*03:21, DQB1*03:22, DQB1*03:23, DQB1*03:24, DQB1*03:25, DQB1*03:26, DQB1*04:01, DQB1*04:02, DQB1*04:03, DQB1*05:01, DQB1*05:02, DQB1*05:03, DQB1*05:04, DQB1*05:05, DQB1*06:01, DQB1*06:02, DQB1*06:03, DQB1*06:04, DQB1*06:05, DQB1*06:06, DQB1*06:07, DQB1*06:08, DQB1*06:09, DQB1*06:10, DQB1*06:11, DQB1*06:12, DQB1*06:13, DQB1*06:14, DQB1*06:15, DQB1*06:16, DQB1*06:17, DQB1*06:18, DQB1*06:19, DQB1*06:20, DQB1*06:21, DQB1*06:22, DQB1*06:23, DQB1*06:24, DQB1*06:25, DQB1*06:27, DQB1*06:28, DQB1*06:29, DQB1*06:30, DQB1*06:31, DQB1*06:32, DQB1*06:33, DQB1*06:34, DQB1*06:35, DQB1*06:36, DQB1*06:37, DQB1*06:38, and DQB1*06:39. The sequence shown is that of DQB1*03:01
+DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease patients. A minority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02)
+DQ0602 (heterodimer of DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes (T1D) and strong susceptibility to narcolepsy. DQB1*06:02 has been found to be present in most of the narcolepsy patients. As well 98% of the patients with an HCRT deficiency are positive for DQB1*06:02
+The number of repeats of 18 amino acids in positions 966 to 1055 is polymorphic and varies among at least 2 different alleles. Alleles corresponding in size to a 4 (PER3.4) and 5 (PER3.5) repeats have been described. The sequence shown is that of allele PER3.5. In most populations around 10% of individuals are homozygous for the 5-repeat (PER3.5), whereas approximately 50% are homozygous for the 4-repeat (PER3.4). In some populations in Papua New Guinea the prevalence of the various genotypes appears to be reversed. These repeats and polymorphism are not present in non-primate mammals. Homozygosity for PER3.5 is more likely to show morning preference, whereas homozygosity for the PER3.4 associates with evening preferences. PER3.5 homozygous show vulnerability to sleep loss with a greater cognitive decline in response to total sleep deprivation (PubMed:11306557, PubMed:17346965, PubMed:19716732, PubMed:24439663, PubMed:24577121)
+There are several alleles. The sequence shown is that of IMGT allele TRBV7-3*03
+Two allelic forms of this glycoprotein, PGP-1.1 and PGP-1.2, have been reported. The expressed product is PGP-1.1 (Ly-24.1)
+Arg-456-His, Arg-611-His and Ile-720-Val polymorphisms are in tight linkage disequilibrium with one another and associated with type 1 diabetes in Japanese
+Alleles from the pyrethroid-susceptible strains CS (CYP6D1v2) (shown here) and Edinburgh (CYP6D1v1), and two alleles from the pyrethroid-resistant strains LPR (CYP6D1v3) and YPER (CYP6D1v4) are described here
+There are several alleles. The sequence shown is that of IMGT allele TRAV9-2*01
+There are several alleles. The sequence shown is that of IMGT allele TRAV39*01
+There are several alleles. The sequence shown is that of IMGT allele IGKV2D-29*01
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-38-3*01
+In post-menopausal Japanese women, the frequency of Leu-10 is higher in subjects with osteoporosis than in controls
+Different alleles are known. The alpha-A allelic variant contains Gly-16
+Genetic variants in MFSD12 cause skin/hair pigmentation variations and are the cause of white or cream coat color in dogs of various breeds lacking eumelanin (PubMed:31117290). Pigmentation variations are caused by dilution of pheomelanin (PubMed:31117290)
+Inbred mouse strains possess 1 of 3 alleles at the HBB locus: D (diffuse), S (single), and P. The D and P alleles are actually closely linked doublets that coordinately express a major and a minor chain, the minor chain being slightly different in the two alleles. The S allele produces only 1 chain, it is characteristic of North American wild mice
+There are several alleles. The sequence shown is that of IMGT allele IGLV5-52*01
+The polymorphisms show clinal variations. There are 2 common electrophoretic variants, Pgm-A and Pgm-B, which differ in their kinetic and stability parameters. Variations in Pgm are associated with differences in enzyme activity and glycogen content
+Genetic variations in SEMA7A define the John Milton Hagen blood group system (JMH) [MIM:614745]. Three different JMH phenotypes have been identified based on the presence or absence of the high-frequency JMH antigen: JMH-weak, JMH-negative, and JMH-variant. The JMH-weak and -negative phenotypes can be either acquired or inherited and are characterized by a reduction or complete loss of JMH expression on red blood cells. Individuals with the JMH-variant phenotype are usually JMH-positive and have alloantibodies compatible with JMH-negative red blood cells. The JMH-variant phenotype results from rare SEMA7A missense variants
+There are several alleles. The sequence shown is that of IMGT allele TRBV11-1*01
+At protein level, three alleles are known: CYP3A43*1, CYP3A43*2 and CYP3A43*3. The sequence shown is that of CYP3A43*1, which is the most frequent allele. The allele CYP3A43*2 is likely to be non-functional
+Genetic variations in CD36 are involved in susceptibility to malaria and influence the severity and outcome of malaria infection [MIM:611162]
+The following alleles of DQA1 are known: DQA1*01:01, DQA1*01:02, DQA1*01:03, DQA1*01:04, DQA1*01:05, DQA1*01:06, DQA1*01:07, DQA1*02:01, DQA1*03:01, DQA1*03:02, DQA1*03:03, DQA1*04:01, DQA1*04:02, DQA1*04:03, DQA1*04:04, DQA1*05:01, DQA1*05:02, DQA1*05:03, DQA1*05:04, DQA1*05:05, DQA1*05:06, DQA1*05:07, DQA1*05:08, DQA1*05:09, DQA1*06:01, DQA1*06:02. The sequence shown is that of DQA1*05:01
+DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease patients. A minority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02). DQ0602 (heterodimer of DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes (T1D) and strong susceptibility to narcolepsy
+The polymorphism is not associated with Axenfeld-Reiger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS) or related ocular malformations
+There are several alleles. The sequence shown is that of IMGT allele TRAV12-2*01
+Genetic variations in TRPV4 determine the sodium serum level quantitative trait locus 1 (SSQTL1) [MIM:613508]. In some populations, variant Pro19Ser has been shown to be significantly associated with hyponatremia defined as serum sodium concentration below or equal to 135 mEq/L
+Thr-62 is associated with increased risk for uric acid nephrolithiasis
+A stop codon in the gene coding for this protein at position Gln-194 is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in non-Africans than in African-Americans
+There are two alleles. The sequence shown is that of beta-1
+Variations in Tas2r105 are associated with avoidance of cycloheximide at low concentrations
+There are several alleles. The sequence shown is that of IMGT allele IGHV5-10-1*03
+There are several alleles. The sequence shown is that of IMGT allele IGLV3-1*01
+Genetic variations in SLC17A3 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 4 (UAQTL4) [MIM:612671]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia
+Half of the downstream region (residues 1035 to 1713) of the AWA1 gene was lost in the nonfoaming strain K701 due to a chromosomal recombination event
+There seems to be a deletion in the gene coding for this protein in about 98% of the population
+Genetic variations in CALCR may be correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture
+The number of repeats is polymorphic and varies among different alleles. Allele S (short), allele M (medium) and allele L (long) contain 6, 7 and 9 tandem repeats respectively
+Genetic variation in MTHFR influences susceptibility to occlusive vascular disease, neural tube defects (NTD), colon cancer and acute leukemia
+The OR gene possesses two alleles in melon, one associated with orange flesh (this entry) and the second being associated with either white or green flesh (AC A0A0D3MU35). A single SNP between the two alleles causes a change of an evolutionarily highly conserved Arg in position 108 (AC A0A0D3MU35) to His (His-108). The Arg and His alleles are responsible for the non-orange and orange melon fruit phenotypes, respectively. This findings could serve as a novel genetic tool to enrich carotenoid content in transgenic crops
+There are several alleles. The sequence shown is that of IMGT allele IGLV4-69*01
+In human populations there are two major allelic forms, alpha-1 (1-1) with 83 residues and alpha-2 (2-2) with 142 residues. These alleles determine 3 possible genotypes, homozygous (1-1 or 2-2) and heterozygous (2-1), and 3 major phenotypes HP*1F/HP*1S and HP*2FS. The two main alleles of HP*1 are called HP*1F (fast) and HP*1S (slow). The alleles exhibit different oligomerization properties. In healthy males, but not in females, the Hp 2-2 phenotype is associated with higher serum iron, decreased antimicrobial and antioxidant capability, and less efficient clearance from the circulation, than Hp 1-1 and 2-1. The sequence displayed in this entry corresponds to allele alpha-2 (2-2)
+The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 140 in the reference genome. The sequence shown in this entry is that of variant p.Ter140Arg. This variant has a frequency of about 1% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2). Polymorphic GPR33 gene inactivation has been observed in hominoids, including chimpanzees, as well as in some rodents, such as rat, but not in other mammals. A likely cause of GPR33 inactivation by selection is its interplay with an exogenous factor, such as a rodent-hominoidotopic pathogen
+The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 456 in the reference genome, leading to the synthesis of a truncated protein lacking enzymatic activity in vitro. The sequence shown in this entry is that of variant p.Ter456Tyr, which has a frequency of about 88% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2) and gives rise to a fully active beta-glucosidase
+There are several alleles. The sequence shown is that of IMGT allele TRBV11-2*01
+In mosquito strain GEO, which is 10(5)-fold more resistant to L.sphaericus than wild-type, a premature stop codon at Leu-569 leads to loss of the probable GPI anchor and disrupts the correct subcellular location. Restoration of Leu-269 rescues the subcellular location and binary Bin toxin binding to transfected Sf9 cells in culture (PubMed:11983886)
+There are several alleles. The sequence shown is that of IMGT allele TRBV17*02
+The following alleles of HA-8 are known: HA-8R, HA-8P, HA-8PL, of which only HA-8R leads to specific cytotoxic T lymphocyte (CTL) recognition. The lack of CTL recognition of cells expressing HA-8P may be due to impaired transport associated with antigen processing. The sequence shown is that of HA-8R
+There are several alleles. The sequence shown is that of IMGT allele IGLV3-10*01
+Several individuals from different ethnic background were analyzed for polymorphism. MR1 was identical in all individuals analyzed, except one. MR1 is not polymorphic
+Allele B is shown, polygyne population from Argentina and allele B2, monogyne population from Brazil
+Genetic variation in GHR may act as phenotype modifier in familial hypercholesterolemia [MIM:143890] patients carrying a mutation in the LDLR gene
+BCAM is responsible for the Lutheran blood group system (LU) [MIM:111200]. Lutheran is a complex blood group system consisting of 19 antigens. Antigens Lu(a) and Lu(b) are defined by a polymorphism at position 77: Lu(a) has His-77 and Lu(b) has Arg-77
+Inactivating variants in BCAM are responsible for the recessive Lutheran null phenotype Lu(a-b-) of the Lutheran blood group [MIM:247420]. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum
+The following alleles of MICA are known: MICA*001, MICA*002, MICA*004, MICA*005, MICA*006, MICA*007, MICA*008, MICA*009, MICA*010, MICA*011, MICA*012, MICA*013, MICA*014, MICA*015, MICA*016, MICA*017, MICA*018, MICA*019, MICA*020, MICA*022, MICA*023, MICA*024, MICA*025, MICA*026, MICA*027, MICA*028, MICA*029, MICA*030, MICA*031, MICA*032, MICA*033, MICA*034, MICA*035, MICA*036, MICA*037, MICA*038, MICA*039, MICA*040, MICA*041, MICA*042, MICA*043, MICA*044, MICA*045, MICA*046, MICA*047, MICA*048, MICA*049, MICA*050, MICA*051, MICA*052, MICA*053, MICA*054, MICA*055 and MICA*056. The sequence shown is that of MICA*001
+Genetic variations in TNF influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424]
+Genetic variations in TNF are involved in susceptibility to malaria [MIM:611162]
+PIEZO1 is responsible for the Er blood group system (ER) [MIM:620207]. At least five antigens have been identified: Er(a), Er(b), Er(3), Er(4), and Er(5). The molecular basis of the Er(a)/Er(b) polymorphism is a single variation at position 2394; Gly-2394 corresponds to Er(a) and Ser-2394 to Er(b), while the Er(3) antigen is recognized by antibodies produced by Er(a-b-) individuals. The Er(4) and Er(5) antigens are defined by Glu-2407 and Arg-2245, respectively. Alloantibodies against Er(4) and Er(5) are associated with hemolytic disease of the fetus and newborn
+The sequence shown is that of the liver isozyme. The kidney isoform differs in 12 positions
+The MAF1 locus encodes multiple tandemly duplicated paralogs that vary in expression, sequence and copy number across T.gondii strains (PubMed:26920761). For instance, type I strain GT1 has 6 copies, type I strain RH has 4 copies, type II strains ME49 and PRU have 4 copies, type III strain VEG has 4 copies and type III strain CTG has only 2 copies (PubMed:26920761). The paralogs are classified into two groups, a and b and have probably arisen from the neofunctionalization of an ancestral MAF1 a gene (PubMed:26920761). They are characterized by the presence or absence of a repetitive stretch of 4 to 7 prolines followed by a serine (P(4:7)S), as well as differences in the amino acids surrounding the proline motif (PubMed:26920761). This motif is either completely missing (a and b0 paralogs) or repeated up to six times (b paralogs) (PubMed:26920761). Across the strains, transcript levels for the a paralogs are similar, however, in type II strain ME49, transcript levels for the b paralogs are low and no paralog MAF1 b1 protein is produced (PubMed:26920761). Paralogs differ in their ability to mediate host mitochondrial association (HMA), but also in their ability to confer a selective advantage during infection in a mouse model (PubMed:26920761). Tachyzoites from type I and III strains associate with host mitochondria (HMA(+)), while tachyzoites from type II strains, such as ME49, do not associate with host mitochondria (HMA(-)) due to a lack of MAF1 b1 expression (PubMed:26920761)
+The sequence shown is that of 6B4-1, 6B4-2 seems to differ in 7 positions and is probably an allele
+The following alleles are known: E*01:01 and E*01:03 (PubMed:3131426, PubMed:10064069, PubMed:16702430, PubMed:16570139, PubMed:28127896). The frequency of E*01:01 and E*01:03 alleles in the population is about equal suggesting balanced selection in diverse populations. Evolutionary studies suggest that E*01:03 is the original allele (PubMed:12445303). Two other alleles has been described E*01:02 and E*01:04 (PubMed:3260916, PubMed:1977695). Allele E*01:02 was found to be identical to HLA E*01:01 (PubMed:3260916, PubMed:22665232). The existence of allele E*01:04 is uncertain as it could not be confirmed in further studies (PubMed:1977695, PubMed:12445303). The sequence shown is that of E*01:03 (PubMed:10064069, PubMed:16702430, PubMed:16570139, PubMed:28127896)
+Pro/Arg-259 polymorphism affects TCN2 plasma concentration and may interfere in vitamin B(12) cellular availability and homocysteine metabolism (PubMed:11159542)
+The allelic form of the enzyme with Gln-192 (allozyme A) hydrolyzes paraoxon with a low turnover number and the one with Arg-192 (allozyme B) with a high turnover number
+The frequencies of the A, B and C alleles is estimated to be 0.85, 0.04 and 0.11 in the French dairy breeds 'Alpine' and 'Saanen'
+In strains 129, C57BL/10, C57BL/6 and LP Glu-776 correlates with a B6dom1-positive phenotype, Asp-776 is found in resistant strains. The B6dom1 minor histocompatibility antigen (MiHA) is used as a model antigen in studying immunodominance
+Highly polymorphic. Depending on the alleles, expression is associated with an increase and early (BALB/c allele) or decrease (HBA allele) of T-helper type 2 cytokine expression. Associated with asthma susceptibility
+Genetic variations in NPC1L1 influence low density lipoprotein cholesterol (LDL-C) content defining the low density lipoprotein cholesterol level quantitative trait locus 7 (LDLCQ7) [MIM:617966]. Inactivating variants may confer a lower risk of coronary heart disease (PubMed:25390462). Rare NPC1L1 variants also influence response to ezetimibe, a drug that reduces plasma LDL-C by blocking sterol absorption in enterocytes (PubMed:15679830)
+Some transcripts displayed additional 12 amino acid repeats of K-P-P-[PQ]-P-[EQ]-[VAF]-T-D-L-P-K (PubMed:11301322). We cannot rule out that they may represent genetic variants
+Genetic variations in MBL2 influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424]
+Genetic variations in MBL2 may influence susceptibility to severe COVID-19 disease caused by SARS-CoV-2 virus infection
+Genetic variations in MBL2 are responsible for mannose-binding protein deficiency [MIM:614372]. This condition is defined as MBL2 protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL2-deficient adults appear healthy, but low levels of MBL2 are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants. There is an association between low levels of MBL2 and a defect of opsonization which results in susceptibility to frequent and chronic infections (PubMed:1675710). Functional MBL2 deficiency may be associated with protection against tuberculosis caused by Mycobacterium africanum but not by Mycobacterium tuberculosis, as observed in studies on Ghanaian patients with pulmonary tuberculosis (PubMed:21695215)
+The two common alleles; HOX1B*A and HOX1B*B have a frequency of 78.8% and 21.2% respectively
+There are four common allelic UGT1A7 variants which exhibit significant differences in catalytic activity towards 3-, 7-, and 9-hydroxy-benzo(a)pyrene. UGT1A7*3 exhibits a 5.8-fold lower relative Vmax compared to UGT1A7*1, whereas UGT1A7*2 and UGT1A7*4 have a 2.6- and 2.8-fold lower relative Vmax than UGT1A7*1, respectively, suggesting that these mutations confer slow glucuronidation phenotype
+Variations in CCR5 are associated with resistance or susceptibility to immunodeficiency virus type 1 (resistance or susceptibility to HIV-1) [MIM:609423]. Variations in CCR5 gene also influence the rate of progression to AIDS after infection
+Variations in CCR5 are associated with susceptibility to West Nile virus (WNV) infection [MIM:610379]
+Genetic variation in UGT1A1 defines the bilirubin serum levels quantitative trait locus 1 (BILIQTL1) [MIM:601816]. Variation in serum bilirubin is associated with altered cardiovascular disease risk and drug metabolism
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-72*01
+Genetic variants in MC1R define the skin/hair/eye pigmentation variation locus 2 (SHEP2) [MIM:266300]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator, with type I skin being the most lightly pigmented and type IV the most dark pigmented. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. Partial loss-of-function mutations are associated with fair skin, poor tanning and increased skin cancer risk
+MC1R variants associated with red hair and fair skin, determine female-specific increased analgesia from kappa-opioid receptor agonist [MIM:613098]
+There are several alleles. The sequence shown is that of IMGT allele IGKV5-2*01
+Genetic variations in AQP7 are responsible for changes in glycerol release during exercise and define the glycerol quantitative trait locus (GLYCQTL) [MIM:614411]
+Allelic variant in EPX is associated with Japanese cedar pollinosis which is a type I allergic disease with ocular and nasal symptoms that develop paroxysmally on contact with Japanese cedar pollen. These symptoms, which occur seasonally each year, are typical features of allergic rhinitis, such as sneezing, excessive nasal secretion, nasal congestion, and conjunctival itching
+Polymorphisms in the 5'-flanking region and in intron 1 may have an effect on transcriptional activity and be associated with an increase in subcutaneous, but not visceral, fat area. Hence, may influence the risk of obesity
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-15*01
+Several isoforms of the active tetrahydrocannabinolic acid synthase found in the 'drug-type' cannabis plants exist due to polymorphism
+Types B0 and B1 are probably allelic variants
+Genetic variations in PCSK1 define the body mass index quantitative trait locus 12 (BMIQ12) [MIM:612362]. Variance in body mass index is a susceptibility factor for obesity
+Nlrp1b gene is extremely polymorphic. 5 alleles have been described in 18 inbred strains: 1 (AC Q2LKW6), 2 (AC A1Z198), 3 (AC Q2LKV5), 4 (AC Q2LKV2) and 5 (this entry). These alleles define susceptibility to B.anthracis lethal toxin (LT). Alleles 1 (carried by strains 129S1/SvImJ, BALB/cJ, C3H/HeJ, CBA/J, FVB/NJ, NON/ShiLtJ, NZO (NZO/HlLtJ) and SWR/J) and 5 (CAST/EiJ) confer macrophage susceptibility to LT. Strains with macrophages resistant to anthrax LT carry alleles 2 (A/J, C57BL/6J and I/LnJ), 3 (AKR/J, NOD/LtJ and SJL/J) or 4 (DBA/2J, P/J and SM/J). Sensitivity to LT leads to IL1B release, macrophage pyroptosis and neutrophil recruitment. This early inflammatory response confers increased resistance to infection by B. anthracis spores (PubMed:16429160). The sequence shown in this entry is that of allele 5 (PubMed:16429160)
+There are several alleles. The sequence shown is that of IMGT allele TRGV5*01
+The region encoding the tandem repeats is highly polymorphic. Divergence of the number of tandem repeats was seen in different cDNA libraries
+Highly polymorphic. Polymorphic residues encode for alpha-1 and alpha-2 domains of the peptide-binding cleft, where they contribute to variations in peptide binding and TCR recognition among different alleles. The human population is estimated to have millions of HLA-A alleles. But only 11 common HLA-A alleles are considered core alleles, representing all functionally significant variation (polymorphism) in alpha-1 and alpha-2 domains. These are: A*01:01; A*02:01; A*02:05; A*03:01; A*11:01; A*24:02; A*26:01; A*29:02; A*30:01; A*74:01 and A*80:01. Among these, A*02:01; A*11:01; A*24:02 and A*26:01, were likely passed by introgression from archaic to modern humans. Functional alleles of more recent origin (non-core) were derived by recombination (PubMed:28650991). The sequence shown is that of A*03:01. The sequences of core alleles and common representative alleles of serologically distinct allele groups are described as variants of A*03:01 (PubMed:28650991). Allele A*31:01 is associated with carbamazepine-induced hypersensitivity reactions among subjects of Northern European ancestry [MIM:608579] (PubMed:21428769)
+A polymorphism in LTA accounts, in part, for susceptibility to leprosy linked to chromosome 6p21.3 (LPRS4) [MIM:610988]
+There are several alleles. The sequence shown is that of IMGT allele IGLV3-32*01
+There are several alleles. The sequence shown is that of IMGT allele TRDJ1*01
+The number of repeats is highly polymorphic and varies among different alleles. These repeats are very similar but not identical
+Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments (PubMed:15955084). Allele shown is KAP4.5-v1 (PubMed:15955084)
+Several alleles are found in the human population, contributing to interindividual variations in the therapeutic efficacy and toxicity of a myriad of drugs such as paclitaxel or amodiaquine. The allele shown here is CYP2C8*1 (PubMed:26427316). CYP2C8 genetic variations are associated with altered drug metabolism and adverse drug effects including acute rhabdomyolysis after cerivastatin use [MIM:618018]
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-49*04
+There are several alleles. The sequence shown is that of IMGT allele TRAV35*01 that is not represented on the reference genome assembly (GRCh38/hg38). The sequence of the reference genome assembly (GRCh38/hg38) is a pseudogene due to a stop codon polymorphism at position 50
+The variable number of tandem repeats (VNTR)-region in exon 11 is highly polymorphic, and VNTR number varies between 3 and 23. The most common allele contains 16 repeats (PubMed:12166660, PubMed:16369531, PubMed:19760265). Some alleles contain common single base insertions in the VNTR region that are predicted to lead to protein truncation and may be associated with an increased risk of exocrine pancreatic dysfunction in autoimmune diabetes (PubMed:16369531)
+Variant Glu-76 (frequently reported as Glu-63) was thought to be associated with severe forms of schizophrenia. This does not seem to be the case
+The sequence shown is that of isoform Eur m 2.0101
+The number of repeats of 16 amino acids in the third cytoplasmic loop is highly polymorphic and varies among different alleles. Alleles corresponding in size to a 2 (D4.2), 3 (D4.3), 4 (D4.4), 5 (D4.5), 6 (D4.6), 7 (D4.7) and 9 (D4.9) repeats have been described. The sequence shown is that of allele D4.4. The polymorphic repeat sequence has little influence on DRD4-binding profiles and might not be essential for G protein interaction
+Individuals with a common stop codon polymorphism in position 392 are unable to mediate flagellin signaling. This polymorphism acts in a dominant fashion and is associated with susceptibility to pneumonia caused by Legionella pneumophila [MIM:608556]. It also provides protection against systemic lupus erythematosus
+A nonsense TLR5 polymorphism, resulting in p.Arg392Ter, confers resistance to melioidosis [MIM:615557], an infection caused by the Gram-negative, flagellated soil saprophyte Burkholderia pseudomallei. Carriers of this hypofunctional TLR5 variant may generate impaired inflammatory responses during melioidosis infection that result in reduced organ failure and lower mortality
+Variant Cys-109 is statistically significantly associated with an increased risk of type 2 diabetes
+Many polymorphic variants of PGM1 exist. 8 different alleles are known: PGM1*1+, PGM1*1-, PGM1*2+, PGM1*2-, PGM1*3+, PGM1*3-, PGM1*7+ and PGM1*7-. The sequence of PGM1*1+ is shown here
+Extensive amino acid sequence differentiation, up to 23%, was observed among maxadilan from different populations. This is a remarkable degree of polymorphism considering the small size of this peptide
+The length of the poly-Gln region is polymorphic in the normal population
+There are several alleles. The sequence shown is that of allele SULT1A1*3
+There are several alleles. The sequence shown is that of IMGT allele TRAC*01
+CD151 defines the MER2=RAPH1 antigen of the RAPH blood group system. 92% of Caucasians are MER2-positive and 8% are apparently MER2-negative
+There are several alleles. The sequence shown is that of IMGT allele TRBV9*02
+There are several alleles. The sequence shown is that of IMGT allele IGLV5-45*04
+There is a significant association between the variants Ala-3, Leu-251 and Thr-348 and a low expression of CD177 on neutrophils (PubMed:12623849, PubMed:14692971). Expression of CD177 on neutrophils is a trait determined by ratio of CD177/CD177P1 alleles (PubMed:27227454). The phenotype of CD177 null neutrophils is due to recombination between exon 7 of CD177 and the pseudogene CD177P1 through gene conversion, changing Lys-263 codon into stop codon (PubMed:27227454). The lack of CD177 expression affects 1-10 percent of the population placing them at risk for formation of anti-neutrophil antibodies that can cause transfusion-related acute lung injury and neonatal alloimmune neutropenia
+There are several alleles. The sequence shown is that of IMGT allele IGKV6D-21*02
+There are several alleles. The sequence shown is that of IMGT allele TRDV3*01
+HCR*WWCC is associated with susceptibility to psoriasis. Psoriasis is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is a multifactorial disease characterized by red, scaly skin lesions that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by hyperproliferative keratinocytes and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age. Association of HCR with psoriasis seem to be due to linkage disequilibrium with Cw*06:02 (PubMed:11348465). HCR is unlikely to be directly involved in psoriasis development
+Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIM:600046]
+There are several alleles. The sequence shown is that of IMGT allele TRBV6-7*01
+Many different variants of ORM2 are known
+The KIR genes are located in a segment of DNA on 19q13.4 in the leukocyte receptor complex that has undergone expansion and contraction over time, probably through unequal crossing-over. Thus, KIR haplotypes vary in the number and types of genes, although a few framework loci, such as the gene KIR3DL1, are present on all or nearly all haplotypes. KIR3DL1 and KIR3DS1 segregate as alleles of the locus KIR3DL1/3DS1
+Allelic variants in IL4RA are associated with a susceptibility to atopy, an immunological condition that can lead to clinical symptoms such as allergic rhinitis, sinusitis, asthma and eczema
+Allelic variants in IL4RA are associated with cedar pollen sensitization. Individuals develop Japanese cedar pollinosis with increased exposure to cedar pollen. Japanese cedar pollinosis is a type I allergic disease with ocular and nasal symptoms that develop paroxysmally on contact with Japanese cedar pollen. These symptoms, which occur seasonally each year, are typical features of allergic rhinitis, such as sneezing, excessive nasal secretion, nasal congestion, and conjunctival itching
+There are two size variants of KRT1, termed allele 1A and allele 1B with allelic frequencies of 0.61 and 0.39. Allele 1B lacks 7 residues compared to allele 1A
+Allelic variations in LVRN are associated with tabby pattern variation in domestic cats
+The MAF1 locus encodes multiple tandemly duplicated paralogs that vary in expression, sequence and copy number across T.gondii strains (PubMed:26920761). For instance, type I strain GT1 has 6 copies, type I strain RH has 4 copies, type II strains ME49 and PRU have 4 copies, type III strain VEG has 4 copies and type III strain CTG has only 2 copies (PubMed:26920761). The paralogs are classified into two groups, a and b and have probably arisen from the neofunctionalization of an ancestral MAF1 a gene (PubMed:26920761). They are characterized by the presence or absence of a repetitive stretch of 4 to 7 prolines followed by a serine (P(4:7)S), as well as differences in the amino acids surrounding the proline motif (PubMed:26920761). This motif is either completely missing (a and b0 paralogs) or repeated up to six times (b paralogs) (PubMed:26920761). cross the strains, transcript levels for the a paralogs are similar, however, in type II strain ME49, transcript levels for the b paralogs are low and no paralog MAF1 b1 protein is produced (PubMed:26920761). Paralogs differ in their ability to mediate host mitochondrial association (HMA), but also in their ability to confer a selective advantage during infection in a mouse model (PubMed:26920761). Tachyzoites from type I and III strains associate with host mitochondria (HMA(+)), while tachyzoites from type II strains, such as ME49, do not associate with host mitochondria (HMA(-)) due to a lack of MAF1 b1 expression (PubMed:26920761)
+A mutation in position 63 is responsible for a short-tail trait in a bob-tailed dog (PubMed:11252170). The homozygous mutation is lethal (PubMed:11252170)
+There are several alleles. The sequence shown is that of IMGT allele TRAV38-1*01
+Sheep has two allelic beta chains, A and B. The B allele sequence is shown
+Different alleles occur in strains of Mus musculus (molossinus or domesticus). In particular the poly-Gln region in 167-177 is polymorphic with either 11, 12 or 13 Gln. The nature of this poly-Gln tract could affect the protein's function by disturbing its secondary structure, perhaps by preventing efficient contact with another protein
+There are several alleles. The sequence shown is that of IMGT allele TRBV6-9*01
+There are two alleles of HTN3, HIS2(1) (shown here) and HIS2(2) that codes for the variant histatin-3-2 found primarily and in high frequencies in black populations
+There are several alleles. The sequence shown is that of IMGT allele TRBV27*01
+Genetic variations in VDR may determine Mycobacterium tuberculosis susceptibility [MIM:607948]
+Genetic variation in CYP2C19 is responsible for poor drug metabolism [MIM:609535]. Individuals can be characterized as either extensive metabolizers (EM) or poor metabolizers (PM). The PM phenotype is inherited in an autosomal recessive manner, with the EM phenotype comprising both homozygous dominant and heterozygote genotypes. There are marked interracial differences in the frequency of this polymorphism. Poor metabolizers represent 2-5% of Caucasians, 13-23% of Asian populations, and as many as 38-79% of individuals of some of the islands of Polynesia and Micronesia. At least 38 different alleles are known including CYP2C19*1A, CYP2C19*1B, CYP2C19*1C, CYP2C19*2A (CYP2C19m1 or CYP2C19m1A), CYP2C19*2B (CYP2C19m1B), CYP2C19*2C (CYP2C19*21), CYP2C19*3A (CYP2C19m2), CYP2C19*3B (CYP2C19*20), CYP2C19*4 (CYP2C19m3), CYP2C19*5A (CYP2C19m4), CYP2C19*5B, CYP2C19*6, CYP2C19*7, CYP2C19*8, CYP2C19*9, CYP2C19*10, CYP2C19*11 CYP2C19*12, CYP2C19*13, CYP2C19*14 CYP2C19*15, CYP2C19*16, CYP2C19*18 and CYP2C19*19. Defective CYP2C19*2 and CYP2C19*3 alleles are characterized by a splice mutation and a stop codon, respectively, and account for most of the PM alleles. The sequence shown is that of allele CYP2C19*1A
+There are several alleles. The sequence shown is that of IMGT allele TRGC2*06
+The CYP1A2*1F allele which is quite common (40 to 50%) is due to a substitution of a base in the non-coding region of the CYP1A2 gene and has the effect of decreasing the enzyme inducibility. Individuals who are homozygous for the CYP1A2*1F allele are 'slow' caffeine metabolizers. Thus for these individual increased intake of caffeine seems to be associated with a concomitant increase in the risk of non-fatal myocardial infraction (MI)
+N-acetylation polymorphism is determined by a low or high NAT activity in liver and has been implicated in the action and toxicity of amine-containing drugs. Slow acetylation genotypes have been associated with significant lung cancer risk. Candidate risk factor for susceptibility to neural tube defects. The NAT1*10 allele has been associated with increased risk of colon and urinary bladder cancers and with higher levels of N-acetyltransferase activity and DNA adducts in aromatic amine tumor target organs such as colon and urinary bladder (PubMed:7585580)
+There are several alleles. The sequence shown is that of IMGT allele TRAV19*01
+The poly-Gln region of ATXN2 is polymorphic: 17 to 29 repeats are found in the normal population. Higher numbers of repeats result in different disease phenotypes depending on the length of the expansion
+In inbred mouse strains there are at least 6 alleles that can occur at the HBA locus: A, B, C, D, F, or G. Strains carrying the A and F alleles produce a single kind of alpha chain, whereas those carrying B, C, D, or G each produce 2 kinds of chains. The sequence shown is that of the B(1) and D(1) allele chains
+There are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer
+Variant Trp-325 is a risk factor that confers susceptibility to type 2 diabetes mellitus (T2D) [MIM:125853]
+There are several alleles. The sequence shown is that of IMGT allele IGKV2D-30*01
+A single nucleotide deletion at position Arg-92 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The deletion is more frequent in African-Americans than in non-Africans
+There are two different allelic variants of CEACAM1, named a and b. The allelic variants differ in 16 amino acids in the Ig-like V-type domain. The sequence shown here, corresponds to allele A
+There are several alleles. The sequence shown is that of IMGT allele IGKV1D-37*01
+Variant Leu-23 ins polymorphism in PCSK9 might have a modifier effect on LDLR mutation and familial hypercholesterolemia
+Genetic variations in PCSK9 define the low density lipoprotein cholesterol level quantitative trait locus 1 (LDLCQ1) [MIM:603776]
+The poly-Gln region of CACNA1A is polymorphic: 6 to 17 repeats in the normal population, expanded to about 21 to 30 repeats in SCA6. Repeat expansion has been reported also in a EA2 family
+Along with GYPB, GYPA is responsible for the MNS blood group system [MIM:111300]. The molecular basis of the GPA M/N bloodgroup antigen is a variation at positions 20 and 24. Ser-20 and Gly-24 correspond to M (shown); 'Leu-20' and 'Glu-24' correspond to N
+GYPA polymorphisms are involved in resistance to malaria [MIM:611162]
+There are several alleles. The sequence shown is that of the functional IMGT allele IGKV1-13*02 that is not represented on the reference genome assembly (GRCh38/hg38). The sequence of the reference genome assembly (GRCh38/hg38) is that of IMGT allele IGKV1-13*01 that is a pseudogene due to a stop codon polymorphism at position 57
+At least 6 electrophoretic isozymes are known: Amy1, Amy2, Amy3, Amy4, Amy5 and Amy6. Strains J87 and KO123 express Amy2; KO140 and 1420#1 express Amy4; L16 expresses Amy5
+There are several alleles. The sequence shown is that of IMGT allele TRGC1*01
+There are several alleles. The sequence shown is that of IMGT allele IGKC*01
+Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1
+Forms A and B are probably allelic variants. Form B is the predominant form and differs only in one position
+Three alleles are known: AADAC*1, AADAC*2 and AADAC*3. The sequence shown is that of AADAC*1 which is found in European American, African American, Japanese and Korean populations at allelic frequencies of 39.3 to 47.4%. The AADAC*2 allele is found in European American, African American, Korean, and Japanese populations at allelic frequencies of 52.6 to 63.5% whereas the AADAC*3 allele is found in European American (1.3%) and African American (2.0%) samples but not in Japanese or Korean samples
+A stop codon due to a single nucleotide insertion in the gene coding for this protein at position Ile-90 is responsible for functional diversity thus producing a pseudogene
+There are several alleles. The sequence shown is that of IMGT allele TRGV8*01
+Variations in the sequences detected among olive varieties and within a single variety, suggesting the presence of microheterogeneity
+This chain is one of five beta chain alleles
+There are two alleles. The sequence shown is that of alpha-I
+Strain BALB/c displays a significantly reduced ability to inhibit phosphorylation of the retinoblastoma protein
+There are several alleles. The sequence shown is that of IMGT allele TRGV11*01
+The following alleles of DRB5 are known: DRB5*01:01, DRB5*01:02, DRB5*01:03, DRB5*01:04, DRB5*01:05, DRB5*01:06, DRB5*01:07, DRB5*01:09, DRB5*01:11, DRB5*01:12 DRB5*01:13, DRB5*01:14, DRB5*02:02, DRB5*02:03, DRB5*02:04, DRB5*02:05. The sequence shown is that of DRB5*01:01
+Genetic variation in SGIP1 is associated with fat mass and SGIP1 may be a determinant of obesity-related traits
+Genetic variants in METTL13 define the deafness modifier locus DFNB26M [MIM:605429]. The DFNB26M phenotype is characterized by normal hearing despite the presence of homozygosity for a causative deafness mutation in the GAB1 gene
+There are several alleles. The sequence shown is that of IMGT allele IGKV3-15*01
+Horse has two non-allelic alpha chains, slow and fast. The slow chain sequence is shown
+The most frequent variant has a stop codon instead of Trp-59, triggering nonsense-mediated decay (PubMed:20138039). The variant Trp-59 is rare, except in some populations from Africa (PubMed:20138039)
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-30*18
+Genetic variations in ADGRG6 influences stature as a quantitative trait (STQTL) [MIM:606255]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits
+Genetic variations in ESR1 are correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture
+There are at least three alleles. The sequence shown is that of allele A
+Segregating pseudogene, locus showing both intact and pseudogene forms in the population. A single nucleotide insertion at position Gly-8 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene
+There are several alleles. The sequence shown is that of IMGT allele TRAV8-3*01
+Variations in TAS2R38 are associated with the ability to taste phenylthiocarbamide (PTC tasting) [MIM:171200]; also called thiourea tasting. The ability to taste the substance PTC and a number of related substances is genetically controlled. Genetic studies have demonstrated complex inheritance for this trait. For some people (and some chimpanzees also), the chemical PTC tastes very bitter. For others, it is tasteless. Actually, substantial variation in taste sensitivity exists in human. Five haplotypes arising from three coding SNPs in the TAS2R38 gene are associated with distinct phenotypes of PTC taste sensitivity
+Various different KIR3DL3 alleles are known: KIR3DL3*00101, KIR3DL3*00102, KIR3DL3*00103, KIR3DL3*00201, KIR3DL3*00202, KIR3DL3*00203, KIR3DL3*00204, KIR3DL3*00205, KIR3DL3*00206, KIR3DL3*00207, KIR3DL3*0030101 KIR3DL3*0030102, KIR3DL3*00401, KIR3DL3*00402, KIR3DL3*005, KIR3DL3*00601, KIR3DL3*00602, KIR3DL3*007, KIR3DL3*00801, KIR3DL3*00802, KIR3DL3*00901, KIR3DL3*00902, KIR3DL3*010, KIR3DL3*01101, KIR3DL3*01102, KIR3DL3*012, KIR3DL3*01301, KIR3DL3*01302, KIR3DL3*01303, KIR3DL3*01304, KIR3DL3*01305, KIR3DL3*01306, KIR3DL3*01307, KIR3DL3*01401, KIR3DL3*01402, KIR3DL3*01403, KIR3DL3*01404, KIR3DL3*01405, KIR3DL3*015 KIR3DL3*016, KIR3DL3*017, KIR3DL3*018, KIR3DL3*019, KIR3DL3*020, KIR3DL3*021, KIR3DL3*022, KIR3DL3*023, KIR3DL3*024, KIR3DL3*025, KIR3DL3*026, KIR3DL3*027, KIR3DL3*028, KIR3DL3*029, KIR3DL3*030 and KIR3DL3*031. The sequence shown corresponds to the alleles KIR3DL3*002
+The five tandem octapeptide repeats region is highly unstable. Insertions or deletions of octapeptide repeat units are associated to prion disease
+A number of polymorphisms confer resistance to prion diseases (PubMed:1439789, PubMed:9482303, PubMed:19923577, PubMed:26061765). Val-127 has been selected for in response to the Kuru epidemic and confers resistance to prion disease by acting as a 'dominant negative' inhibitor of prion conversion (PubMed:26061765). Val-127 is not only itself resistant to conformational conversion, but also inhibits conversion of wild-type proteins. Confers protection against classical Creutzfeldt-Jakob disease (CJD) and Kuru in the heterozygous state, but can be infected with variant CJD prions, resulting from exposure to bovine spongiform encephalopathy prions. Confers complete resistance to all prion strains when homozygous (PubMed:26061765). Always associated with M-129 variant (PubMed:26061765). Val-129 confers relative protection against acquired, sporadic and some inherited prion diseases in the heterozygous state, possibly by preventing homodimerization (PubMed:1439789). Lys-219 confers relative protection against sporadic Creutzfeldt-Jakob disease (CJD) in the heterozygous state (PubMed:9482303)
+There are several alleles. The sequence shown is that of IMGT allele TRBV12-3*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV7-9*01
+The sequence shown is that from strain Oregon-R. The number of the 7 residues repeat vary between strains: strain Oregon-R(2/10) has 11 more copies, strain Karsnas has 8 more copies of the repeat, strain Samarkand-pk1 has 1 less copy and strain Samarkand-pSW9 and strain Berkeley have 2 less copies
+Genetic variants in TPCN2 define the skin/hair/eye pigmentation variation locus 10 (SHEP10) [MIM:612267]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair
+Genetic variations in IL10RB influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424]
+Variant present in the allele pot1(2), haplotypes 1 and 4, is associated with an increased resistance to potato virus Y (PVY) isolate N605
+Variant present in the allele pot-1 is associated with a functionnal mRNA capping activity and normal susceptibility to potyviruses (e.g. pepper mottle virus (PepMoV), potato virus Y (PVY) and tobacco etch virus (TEV))
+There are several alleles. The sequence shown is that of IMGT allele TRAV26-1*01
+There are several alleles. The sequence shown is that of IMGT allele TRBV7-1*01
+This envelope gene is polymorphic with at least five different alleles. A mutation introducing a premature stop codon instead of amino acid 223 is present in approximately 1% of the Caucasian population (PubMed:9525678)
+There are several alleles. The sequence shown is that of IMGT allele IGLV1-50*01
+The variability in length of the polyglutamine stretch is due to polymorphism of this region. Variant B encodes two conceptual proteins, the first consists only of the bHLH domain, the other consists of the PAS-1 and all C-terminal domains. Variant B is expressed weakly at all the times of the day, and it cycles in phase with the full-length form
+The missense variant Arg-56 may be associated with severe hypertriglyceridemia and chylomicronemia
+A 24 bp duplication in exon 10 leads to the activation of an alternative splice site and the production of an inactive protein resulting in chitotriosidase deficiency [MIM:614122]. About 6% of the population are deficient for CHIT1 activity, while 35% are carriers and show reduced enzyme levels. People with CHIT1 deficiency appear perfectly healthy
+There are several alleles. The sequence shown is that of IMGT allele IGKV1-9*01
+In strain S288c and many other laboratory strains, a natural frameshift in position 294 results in a shortened C-terminus when compared to wild-type alleles. It is however not the different C-terminus, but rather 2 polymorphisms at positions 121 and 255 that lead to loss of water transport activity
+The Del322-325 variant has a significant loss of function. It is approximately 10 times more frequent in African-Americans compared with Caucasians (allele frequencies 0.381 versus 0.040)
+There are several alleles. The sequence shown is that of IMGT allele IGLV4-60*02
+In cv. C24, the substrate preference is restricted to a small number of desulfo-gulcosinolates: desulfo-6-methylthiohexyl glucosinolate > desulfo-benzyl glucosinolate > desulfo-2-phenylethyl glucosinolate (PubMed:16367753)
+There are several alleles. The sequence shown is that of IMGT allele TRBV5-8*01
+Genetic variations in LIMA1 influence low density lipoprotein cholesterol (LDL-C) variability and contribute to the low density lipoprotein cholesterol level quantitative trait locus 8 (LDLCQ8) [MIM:618079]
+A partial loss-of-function allele of NAL1 is associated with high photosynthesis rate, high number of spikelets and high grain yield
+2 allelic forms exist in position 111
+There are several alleles. The sequence shown is that of IMGT allele TRAV10*01
+A chromosomal translocation involving CLPTM1 is found in a family with cleft lip and palate. However, no etiologic link with the disease is characterized. Translocation t(2;19)(q11.2;q13.3)
+Polymorphisms in the UGT1A6 gene define four common haplotypes: UGT1A6*1, UGT1A6*2, UGT1A6*3 and UGT1A6*4. Liver tissue samples that were homozygous for UGT1A6*2 exhibited a high rate of glucuronidation relative to tissues with other genotypes. Biochemical kinetic studies indicate that the UGT1A6*2 allozyme, expressed homozygously, had almost two-fold greater activity toward p-nitrophenol than UGT1A6*1 and when expressed heterozygously (UGT1A6*1/*2) it is associated with low enzyme activity. Common genetic variation in UGT1A6 confers functionally significant differences in biochemical phenotype. This genetic variation might impact clinical efficacy or toxicity of drugs metabolized by UGT1A6
+There are two alleles. The sequence shown is that of beta
+Nlrp1b gene is extremely polymorphic. 5 alleles have been described in 18 inbred strains: 1 (AC Q2LKW6), 2 (AC A1Z198), 3 (this entry), 4 (AC Q2LKV2) and 5 (AC Q0GKD5). These alleles define susceptibility to B.anthracis lethal toxin (LT). Alleles 2 (carried by A/J, C57BL/6J and I/LnJ), 3 (AKR/J, NOD/LtJ and SJL/J) or 4 (DBA/2J, P/J and SM/J) are not activated by LT. Alleles 1 (carried by 129S1/SvImJ, BALB/cJ, C3H/HeJ, CBA/J, FVB/NJ, NON/ShiLtJ, NZO (NZO/HlLtJ) and SWR/J strains) and 5 (CAST/EiJ) confer macrophage susceptibility to LT. In susceptible strains, infection by Bacillus anthracis leads to IL1B release, neutrophil recruitment and macrophage pyroptosis. This early inflammatory response confers increased resistance to infection (PubMed:16429160). The sequence shown in this entry is that of allele 3 (PubMed:16429160)
+Involved in susceptibility to leprosy (LPRS2) [MIM:607572]. LPRS2 is associated with polymorphisms in the 5'-regulatory region shared by the PRKN gene
+Disrupted by a t(2;7)(q37.1;q21.3) chromosomal translocation found in a patient suffering from Marfanoid habitus and skeletal anomalies. However, its absence does not seem to be the cause of the disease
+Three common alleles are identified in Indian-origin rhesus macaques: 3A:01, 3A:02 and 3A:03. These alleles display similar IgG responses
+Nlrp1a gene is extremely polymorphic. 5 alleles have been described: 1 (this entry), 2 (AC D9I2G3), 3 (AC D9I2H0), 4 (AC D9I2G1) and 5 (AC D9I2G4)
+The sequence shown is that of 6B1-1, 6B1-2 seems to differ in 9 positions and is probably an allele
+Genetic variations in TLR1 may influence susceptibility to or protection against contracting leprosy and define the leprosy susceptibility locus 5 [MIM:613223]. Ser-602 is a common allele in Caucasians. It is associated with impaired cell surface expression and receptor function resulting in protection against leprosy
+The 2 alleles of TAPBP; TAPBP*01 (Tapasin*01) (shown here) and TAPBP*02 (Tapasin*02); are in linkage disequilibria with the HLA-DRB1 locus in a Japanese population
+There are several alleles. The sequence shown is that of IMGT allele IGKV2-28*01
+There are two alleles, A and B. Allele A has Pro-124, Gln-172 and Val-192. Allele B has Leu-124, Glu-172 and Ala-192
+The three most commonly occurring GLB1 alleles have the designation L, I, and S for large, intermediate, and small proteins, respectively
+At least three different alleles exist. The allele defined by Arg-6 and Glu-89 is associated with a risk of gastric cancer
+CR1 contains a system of antigens called the Knops blood group system. Polymorphisms within this system are involved in malarial rosetting, a process associated with cerebral malaria, the major cause of mortality in Plasmodium falciparum malaria. Common Knops system antigens include McCoy (McC) and Sl(a)/Vil (Kn4, or Swain-Langley; Vil or Villien). Sl(a-) phenotype is more common in persons of African descent and may protect against fatal malaria
+Other polymorphic forms of CR1 contain 23, 37 or 44 Sushi (CCP/SCR) domains instead of the 30 Sushi (CCP/SCR) domains. The most frequent alleles are the F allotype (shown here) and the S allotype (37 repeat Sushi domains). The gene frequencies of the F allotype and S allotype are 0.87 and 0.11 in Caucasians, 0.82 and 0.11 in African Americans, 0.89 and 0.11 in Mexicans
+Genetic variations in CR1 resulting in CR1 deficiency are involved in protection against severe malaria [MIM:611162]. Parasitized red blood cells (RBCs) from children suffering from severe malaria often adhere to complement receptor 1 (CR1) on uninfected RBCs to form clumps of cells known as rosettes. CR1-deficient red blood cells show greatly reduced rosetting and CR1 deficiency occurs in healthy individuals from malaria-endemic regions
+Three common alleles are known: allele APOA5*1, APOA5*2 and APOA5*3. The APOA5*2 haplotype, which consists of 3 non-coding SNPs, is present in approximately 16% of Caucasians and is associated with increased plasma triglyceride concentrations. APOA5*3 haplotype is defined by the rare Ser-19-Trp substitution. Together, the APOA5*2 and APOA5*3 haplotypes are found in 25 to 50% of African Americans, Hispanics, and Caucasians
+A stop codon in the gene coding for this protein at position Gln-227 is responsible for functional diversity thus producing a pseudogene. Hypersensitivity towards isovaleric acid is seen predominantly in individuals who carry at least one copy of the intact allele
+The strong polymorphisms present in cv. Di-17 and cv. Columbia are probably due to an unequal crossing-over between the highly related RPP8 and RPH8A genes present in cv. Landsberg erecta. Such variations probably modify the specificity of pathogen recognition
+There are several alleles. The sequence shown is that of IMGT allele TRBV5-3*02
+Presence of two potential AG acceptor sites at the splice junction between exons 9 and 10, thus resulting in two different splice variants
+There are several alleles. The sequence shown is that of IMGT allele IGKV1-39*01
+The sequence shown is that of allele ADH1-F
+XK is responsible for the Kx blood group system
+There are several alleles. The sequence shown is that of IMGT allele IGHV4-31*03
+Genetic variations in GOT1 are associated with low serum aspartate aminotransferase and define the aspartate aminotransferase serum level quantitative trait locus 1 (ASTQTL1) [MIM:614419]
+Genetic variations in the CD209 promoter determine M.tuberculosis susceptibility [MIM:607948] (PubMed:16379498)
+Genetic variations in CD209 may influence susceptibility or resistance to dengue virus infection, as well as disease progression and severity [MIM:614371]. A promoter polymorphism in the CD209 gene is associated with protection from dengue fever, but not dengue hemorrhagic fever
+There are several alleles. The sequence shown is that of IMGT allele TRBV6-5*01
+There are several alleles. The sequence shown is that of IMGT allele IGKV3D-7*01
+The exact length of RP1L1 is variable between individuals due to the presence of several length polymorphisms. The sequence shown here is that of allele RP1L1-1 and includes 3 repeats (from aa 1292-1342) with a length of 16 amino acids. The number of repeats is highly polymorphic and varies among different alleles, ranging from 3 to 8
+Genetic variation in PRKAG3 defines the skeletal muscle glycogen content and metabolism quantitative trait locus (SMGMQTL) [MIM:619030]. Muscle fibers from carriers of variant Trp-225 have approximately 90% more muscle glycogen content than controls and decreased levels of intramuscular triglyceride
+The number of repeats in the mucin domain varies between 5 and 8 repeats
+There are several alleles. The sequence shown is that of IMGT allele TRAV29/DV5*01
+In inbred mouse strains, there are at least two alleles which can occur at the Ren1 locus: Ren-1D and Ren-1C. The sequence shown is that of Ren-1C
+C57BL/6J and C57BR/cdJ mice specifically present an insertion of a type II early transposon in the opposite orientation into exon 6. This results in a strong reduction in the protein levels of isoform L
+There are several alleles. The sequence shown is that of IMGT allele TRGV1*01
+There are several alleles. The sequence shown is that of IMGT allele IGHV3-30-3*03
+Genetic variants in KITLG define the skin/hair/eye pigmentation variation locus 7 (SHEP7) [MIM:611664]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair
+A non-coding SNP (dbSNP:rs12821256) has been shown to be associated with classic blond hair color in Europeans. This SNP is located 350 kb upstream from KITLG, in an enhancer specifically active in the hair follicle environment. It alters a LEF1 binding site, reducing LEF1 responsiveness in cultured keratinocytes. This SNP is not associated with eye pigmentation. It is most prevalent in Northern Europe (PubMed:24880339)
+Highly polymorphic. Polymorphic residues encode for the beta-1 domain of the peptide-binding cleft, where they contribute to variations in peptide binding and TCR recognition among different alleles. The sequence shown is that of DRB1*15:01. The sequences of common representative alleles of serologically distinct allele groups as defined in the catalog of common and well-documented HLA alleles, are described as variants of DRB1*15:01 (PubMed:23510415). In the context of hematological malignancy and T cell transplantation, alleles DRB1*03:01 and DRB1*13:01 present minor histocompatibility antigens derived respectively from host MTHFD1 and LY75 proteins, contributing to T cell-mediated graft-versus-leukemia effect and complete remission (PubMed:19706888)
+Genetic variation in ABCB1 may play a role in patients who do not respond to drug treatment
+The poly-Gln region of TBP is highly polymorphic (25 to 42 repeats) in normal individuals and is expanded to about 47-63 repeats in spinocerebellar ataxia 17 (SCA17) patients
+The sequence shown is that of isoform Lep d 2.0101
+The poly-Gln region seems to be polymorphic
+There are at least three alleles; SD2H; SD1 and SD2L. The sequence of SD2H is shown here
+Displays lower polymorphism than HLA-A and HLA-B. Polymorphic residues encode for alpha-1 and alpha-2 domains of the peptide-binding cleft, where they contribute to variations in peptide binding and TCR recognition among different alleles. The human population is estimated to have millions of HLA-C alleles. But only 14 common HLA-C alleles are considered core alleles, representing all functionally significant variation (polymorphism) in alpha-1 and alpha-2 domains. These are: C*01:02; C*02:02; C*03:02; C*04:01; C*05:01; C*06:02; C*07:01; C*07:04; C*08:01; C*12:02; C*14:02; C*15:02; C*16:01 and C*17:01. Among these, C*01:02; C*02:02; C*03:02; C*08:01; C*12:02; C*14:02 and C*15:02, were likely passed by introgression from archaic to modern humans. Functional alleles of more recent origin (non-core) were derived by recombination (PubMed:28650991). The sequence shown is that of C*07:02. The sequences of core alleles and common representative alleles of serologically distinct allele groups are described as variants of C*07:02
+There are several alleles. The sequence shown is that of IMGT allele IGLV3-9*01
+There are several alleles. The sequence shown is that of IMGT allele IGLV1-40*01
+There are two alleles. The sequence shown is that of alpha-A
+Three alleles have been identified in the Japanese population: Se1, Se2, and Sej
+Common polymorphisms in FUT2 define the vitamin B12 plasma level quantitative trait locus 1 (B12QTL1) [MIM:612542]. Vitamin B12 found in meat and milk products is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency
+Genetic variation in FUT2 results in the non-secretor phenotype which gives rise to non-functional FUT2, resulting in a lack of the H type-1 oligosaccharide ligand in secretions, and this prevents Norwalk virus binding contributing to resistance to Norwalk virus infection
+Polymorphic NUDT15 variants define the poor metabolism of thiopurines 2 genetic locus (THPM2) [MIM:616903]. Thiopurines are used as immunosuppressants or cytotoxic drugs and are prescribed for a variety of clinical conditions including leukemia, autoimmune disease and organ transplantation. Patients with low NUDT15 activities have an increased risk for toxic effects after receiving standard doses of thiopurine drugs
+Genetic variations in LRP5 define the bone mineral density quantitative trait locus 1 (BMND1) [MIM:601884]. Variance in bone mineral density influences bone mass and contributes to size determination in the general population
+Several alleles exist depending on both the number of zinc finger C2H2 type domains and their identity (PubMed:22028627). Each allele binds to a specific hotspot set (PubMed:29478809). Both polymorphisms in the zinc finger C2H2 type domains and in DNA target sequence control recombination at hotspot (PubMed:22028627). The affinity of each allele for its DNA-binding site can vary histone methyltransferase activity (PubMed:29478809)