CD79A (P11912) variants and mutations

CD79A (also known as P11912) is a human protein-coding gene encoding a b-cell antigen receptor complex-associated protein alpha chain protein. Together with CD79B, it carries the intracellular signaling motifs that allow the B-cell receptor to transmit antigen-binding signals. Biallelic loss-of-function variants can block B-cell development and cause agammaglobulinemia. This analysis covers 581 CD79A variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes isolated agammaglobulinemia, agammaglobulinemia, and autosomal agammaglobulinemia. Example CD79A variants include M1?, P2L, and P2S.

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 CD79A variants

Examples include M1?, P2L, P2S, P2H, G3A, G3G, G4C, G4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.