BBS4 (BBSome complex member BBS4) variants and mutations

BBS4 (also known as BBSome complex member BBS4) is a human protein-coding gene encoding a BBSome complex member protein. It helps assemble and localize the BBSome and links ciliary trafficking machinery to the cytoskeleton. Biallelic pathogenic variants cause Bardet-Biedl syndrome, with characteristic retinal, metabolic, renal, and developmental manifestations. This analysis covers 772 BBS4 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes Bardet-Biedl syndrome 4, Bardet-Biedl syndrome, and Bardet-Biedl syndrome 1. Example BBS4 variants include M1T, M1V, and A2G.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

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 BBS4 variants

Examples include M1T, M1V, A2G, A2V, A2P, A2T, A2S, A2D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.