HLA-A (P04439) variants and mutations

HLA-A (also known as P04439) is a human protein-coding gene encoding a HLA class I histocompatibility antigen, A alpha chain protein. It displays intracellularly derived peptides at the cell surface for surveillance by CD8 T cells and natural-killer-cell receptors. Extreme allelic diversity shapes antiviral and antitumor immunity and can influence susceptibility to autoimmune disease and drug hypersensitivity. This analysis covers 1,288 HLA-A variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes diffuse large B-cell lymphoma, HIV infectious disease, and COVID-19. Example HLA-A variants include M1?, A2P, and A2T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable HLA-A variants

Examples include M1?, A2P, A2T, A2V, A2R, A2S, A2G, A2D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.