CD80 (P33681) variants and mutations

CD80 (also known as P33681) is a human protein-coding gene encoding a t-lymphocyte activation antigen protein. It provides costimulatory signals to T cells through CD28 and inhibitory signals through CTLA-4, helping determine the strength and duration of adaptive immune responses. This pathway is therapeutically manipulated by checkpoint inhibitors and CTLA-4-Ig fusion proteins. This analysis covers 623 CD80 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes rheumatoid arthritis, juvenile idiopathic arthritis, and psoriatic arthritis. Example CD80 variants include M1?, H3D, and R5P.

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 CD80 variants

Examples include M1?, H3D, R5P, R5Q, R5W, G8E, G8R, S10P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.