SF3B1 (Splicing factor 3B subunit 1) variants and mutations

SF3B1 (also known as Splicing factor 3B subunit 1) is a human protein-coding gene encoding a splicing factor 3B subunit 1 protein. It recognizes branch-point regions during spliceosome assembly and helps define correct 3-prime splice sites. Recurrent hotspot mutations alter splice-site choice and drive myelodysplastic syndromes, chronic lymphocytic leukemia, uveal melanoma, and other cancers. This analysis covers 2,363 SF3B1 variants and mutations. Of these, 30% have computational variant effect predictions. Disease context includes craniofacial microsomia, dengue disease, and neurodegenerative disease. Example SF3B1 variants include A2S, A2T, and A2V.

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 SF3B1 variants

Examples include A2S, A2T, A2V, K3N, I4F, I4L, I4N, I4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.