AQP5 (Aquaporin-5) variants and mutations

AQP5 (also known as Aquaporin-5) is a human protein-coding gene encoding an aquaporin-5 protein. It supports fluid secretion in salivary, lacrimal, airway, and other exocrine tissues by facilitating transcellular water movement. Dominant pathogenic variants can cause palmoplantar keratoderma, reflecting an additional role in epidermal homeostasis. This analysis covers 636 AQP5 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes Non-epidermolytic palmoplantar keratoderma, Palmoplantar keratoderma, and epidermolytic palmoplantar keratoderma, 1. Example AQP5 variants include K2R, K2N, and K2K.

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 AQP5 variants

Examples include K2R, K2N, K2K, K3R, K3K, E4G, E4K, E4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.