CTLA4 (Cytotoxic T-lymphocyte protein 4) variants and mutations

CTLA4 (also known as Cytotoxic T-lymphocyte protein 4) is a human protein-coding gene encoding a cytotoxic T-lymphocyte protein 4 protein. It restrains T-cell activation by competing with CD28 for CD80 and CD86 and by delivering inhibitory signals after immune activation. Haploinsufficiency causes immune dysregulation with autoimmunity and lymphoproliferation, while therapeutic blockade enhances antitumor immunity. This analysis covers 474 CTLA4 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Hashimoto thyroiditis, and systemic lupus erythematosus. Example CTLA4 variants include A2S, A2V, 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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CTLA4 variants

Examples include A2S, A2V, A2T, C3F, C3R, L4F, L4L, F6I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.