AQP4 (Aquaporin-4) variants and mutations

AQP4 (also known as Aquaporin-4) is a human protein-coding gene encoding an aquaporin-4 protein. It provides the dominant water pathway in astrocyte endfeet and helps control brain water balance, potassium homeostasis, and glymphatic fluid movement. Autoantibodies against its extracellular surface are pathogenic in neuromyelitis optica spectrum disorder. This analysis covers 702 AQP4 variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes megalencephalic leukoencephalopathy with subcortical cysts 4, remitting, hypertrophic cardiomyopathy, and cervical carcinoma. Example AQP4 variants include S2C, S2N, and S2R.

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 AQP4 variants

Examples include S2C, S2N, S2R, S2T, D3E, D3G, R4I, R4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.