SLC9A3 (Sodium/hydrogen exchanger 3) variants and mutations

SLC9A3 (also known as Sodium/hydrogen exchanger 3) is a human protein-coding gene encoding a sodium/hydrogen exchanger 3 protein. It exchanges luminal sodium for intracellular protons in intestinal and renal epithelia, supporting salt absorption and acid-base balance. Biallelic loss-of-function variants cause congenital sodium diarrhea with severe neonatal salt and fluid loss. This analysis covers 1,090 SLC9A3 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes congenital sodium diarrhea, hyperphosphatemia, and irritable bowel syndrome. Example SLC9A3 variants include M1V, W2*, and W2R.

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 SLC9A3 variants

Examples include M1V, W2*, W2R, G3E, A6D, A6F, A6P, A6S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.