SLC4A1 (Band 3 anion transport protein) variants and mutations

SLC4A1 (also known as Band 3 anion transport protein) is a human protein-coding gene encoding a band 3 anion transport protein. In red blood cells it exchanges chloride and bicarbonate to support carbon-dioxide transport, while in renal intercalated cells it is required for acid-base regulation. Pathogenic variants can cause hereditary spherocytosis or distal renal tubular acidosis depending on the affected function. This analysis covers 1,303 SLC4A1 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes hereditary spherocytosis type 4, autosomal dominant distal renal tubular acidosis, and renal tubular acidosis, distal, 4, with hemolytic anemia. Example SLC4A1 variants include E2K, E2Q, and Q5=.

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 SLC4A1 variants

Examples include E2K, E2Q, Q5=, Q5R, E9G, E9K, D10V, M11I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.