SH2D1A (SH2 domain-containing protein 1A) variants and mutations

SH2D1A (also known as SH2 domain-containing protein 1A) is a human protein-coding gene encoding a SH2 domain-containing protein 1A protein. It coordinates signaling through SLAM-family immune receptors and is essential for normal T-cell and natural-killer-cell responses to Epstein-Barr virus. Loss-of-function variants cause X-linked lymphoproliferative disease type 1, with fulminant EBV-associated immune dysregulation. This analysis covers 299 SH2D1A variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes X-linked lymphoproliferative disease, lymphoma, and lymphoproliferative syndrome. Example SH2D1A variants include M1?, M1I, and M1T.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable SH2D1A variants

Examples include M1?, M1I, M1T, M1V, D2G, D2D, A3S, A3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.