ATP6V1B1 (P15313) variants and mutations

ATP6V1B1 (also known as P15313) is a human protein-coding gene encoding a v-type proton ATPase subunit B, kidney isoform protein. It supplies an essential catalytic subunit of the vacuolar proton pump in acid-secreting epithelia, including renal intercalated cells and the inner ear. Biallelic loss-of-function variants cause distal renal tubular acidosis, often accompanied by sensorineural hearing loss. This analysis covers 861 ATP6V1B1 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss, distal renal tubular acidosis, and hereditary disease. Example ATP6V1B1 variants include M1L, M1T, and A2D.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ATP6V1B1 variants

Examples include M1L, M1T, A2D, A2S, A2T, A2V, A2A, M3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.