BBS1 (BBSome complex member BBS1) variants and mutations

BBS1 (also known as BBSome complex member BBS1) is a human protein-coding gene encoding a BBSome complex member protein. Within the BBSome, it helps control trafficking of membrane proteins into and out of primary cilia. Biallelic pathogenic variants cause Bardet-Biedl syndrome, with retinal degeneration, obesity, renal abnormalities, polydactyly, and variable neurodevelopmental features. This analysis covers 912 BBS1 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, and retinitis pigmentosa. Example BBS1 variants include M1I, M1L, and M1T.

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 BBS1 variants

Examples include M1I, M1L, M1T, M1V, A2G, A2T, A2V, A2D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.