rs3135391

This is a synonymous variant in the HLA-DRA gene — it does not change the protein's amino acid sequence.

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Research that mentions this SNP (1)

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Type 2 diabetes susceptibility loci in the Ashkenazi Jewish population
AssociationN=1,312Michal Bronstein et al.(2008)· Human Genetics

This study characterized an Ashkenazi Jewish (AJ) population-specific genetic signature using genome-wide SNP data from 1,312 AJ individuals. Using ADMIXTURE and principal components analysis, the authors identified allelic patterns that differentiate AJ from European and Middle Eastern populations. Gene Ontology enrichment analysis of the AJ-specific genetic signature revealed enrichment in genes involved in transepithelial chloride transport (including CFTR with rs213950 showing V158M variant) and equilibrioception (PCDH15, CLRN1), implicating these pathways in the elevated prevalence of cystic fibrosis and Usher syndrome in Ashkenazi Jews. The study also identified disease-relevant alleles including MTHFR C677T (rs1801133), SH2B3 rs3184504 associated with type 1 diabetes/celiac disease, and MC1R rs1805005, and provided a validated set of 103 ancestry informative markers (AIMs) for population stratification correction.

Traits studied:Alzheimer's diseaseAncestry informative markersAshkenazi Jewish population structureAutoimmune diseasesCeliac diseaseCrohn's diseaseCystic fibrosisMelanomaMetabolic disordersMultiple sclerosisRheumatoid arthritisType 1 diabetesType 2 diabetesUsher syndrome
PubMedDOIMetascience Observatory

About HLA-DRA

HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such as B lymphocytes, dendritic cells, and monocytes/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020]

View all HLA-DRA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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