SLC12A3 (P55017) variants and mutations

SLC12A3 (also known as P55017) is a human protein-coding gene encoding a solute carrier family 12 member 3 protein. It reabsorbs sodium and chloride in the distal convoluted tubule and is a major determinant of renal salt and magnesium handling. Biallelic loss-of-function variants cause Gitelman syndrome with hypokalemic metabolic alkalosis, hypomagnesemia, and low urinary calcium. This analysis covers 1,773 SLC12A3 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes Gitelman syndrome, hypertensive disorder, and nephrotic syndrome. Example SLC12A3 variants include M1V, A2G, and A2V.

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, ClinGen, MaveDB, LitVar.

Notable SLC12A3 variants

Examples include M1V, A2G, A2V, E3V, E3E, L4Q, L4L, L4P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.