MS4A1 (B-lymphocyte antigen CD20) variants and mutations

MS4A1 (also known as B-lymphocyte antigen CD20) is a human protein-coding gene encoding a b-lymphocyte antigen CD20 protein. Its expression spans much of B-cell development and contributes to calcium signaling and B-cell activation. Its stable surface expression makes it a major therapeutic target for B-cell depletion in lymphoma, leukemia, and autoimmune disease. This analysis covers 703 MS4A1 variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes B-cell chronic lymphocytic leukemia, diffuse large B-cell lymphoma, and follicular lymphoma. Example MS4A1 variants include T2K, T2T, and T3I.

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 MS4A1 variants

Examples include T2K, T2T, T3I, P4S, P4T, P4L, P4P, R5G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.