ATP1A2 (P50993) variants and mutations

ATP1A2 (also known as P50993) is a human protein-coding gene encoding a sodium/potassium-transporting ATPase subunit alpha-2 protein. It restores sodium and potassium gradients after activity in astrocytes and other excitable tissues and thereby supports neuronal ion homeostasis. Pathogenic variants are a major cause of familial hemiplegic migraine type 2 and can produce severe episodic neurologic disease. This analysis covers 1,218 ATP1A2 variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes migraine, familial hemiplegic, 2, alternating hemiplegia of childhood 1, and developmental and epileptic encephalopathy 98. Example ATP1A2 variants include M1?, M1T, and G2C.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable ATP1A2 variants

Examples include M1?, M1T, G2C, G2V, G2G, R3C, R3H, R3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.