CD28 (P10747) variants and mutations

CD28 (also known as P10747) is a human protein-coding gene encoding a t-cell-specific surface glycoprotein protein. It provides a key costimulatory signal when T cells recognize antigen, promoting IL-2 production, survival, metabolism, and clonal expansion. Modulating CD28-family signaling is central to therapies that either enhance antitumor immunity or suppress unwanted immune activation. This analysis covers 481 CD28 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes HIV infectious disease, asthma, and immunodeficiency 123 with HPV-related verrucosis. Example CD28 variants include M1L, M1T, and M1I.

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 CD28 variants

Examples include M1L, M1T, M1I, L2F, L2I, L2H, L2L, R3K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.