AQP1 (Aquaporin-1) variants and mutations

AQP1 (also known as Aquaporin-1) is a human protein-coding gene encoding an aquaporin-1 protein. It enables rapid water movement across cell membranes and also conducts gases and, under some conditions, ions in vascular, renal, and other tissues. Rare loss-of-function variants produce the Colton-null blood-group phenotype and can impair urinary concentrating ability. This analysis covers 634 AQP1 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes osteoporosis, nephrolithiasis, and bone disorder. Example AQP1 variants include M1T, M1I, and M1V.

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 AQP1 variants

Examples include M1T, M1I, M1V, A2T, A2A, S3R, S3G, S3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.