PRKAA1 (Q13131) variants and mutations

PRKAA1 (also known as Q13131) is a human protein-coding gene encoding a 5'-AMP-activated protein kinase catalytic subunit alpha-1 protein. It provides an AMPK catalytic subunit that senses low cellular energy and shifts metabolism toward ATP production while restraining energy-consuming growth programs. Dysregulated AMPK signaling influences diabetes, cardiovascular disease, and cancer, although severe monogenic PRKAA1 disease is uncommon. This analysis covers 901 PRKAA1 variants and mutations. Of these, 64% have computational variant effect predictions. Disease context includes cardiovascular disorder, gastric carcinoma, and duodenal ulcer. Example PRKAA1 variants include M1?, R2C, and R2G.

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 PRKAA1 variants

Examples include M1?, R2C, R2G, R2H, R2L, R2S, R3K, R3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.