PKLR (Pyruvate kinase PKLR) variants and mutations

PKLR (also known as Pyruvate kinase PKLR) is a human protein-coding gene encoding a pyruvate kinase protein. It catalyzes the final ATP-generating step of glycolysis in red blood cells and liver. Biallelic loss-of-function variants cause pyruvate kinase deficiency, leading to chronic nonspherocytic hemolytic anemia because erythrocytes cannot maintain adequate ATP production. This analysis covers 1,019 PKLR variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes pyruvate kinase deficiency of red cells, Hemolytic anemia due to red cell pyruvate kinase deficiency, and pyruvate kinase hyperactivity. Example PKLR variants include S2*, S2L, and S2W.

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 PKLR variants

Examples include S2*, S2L, S2W, Q4H, I7K, I7T, S8*, S8P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.