PKLR NP_000289.1:p.R479H

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the amino acid residue at position 479 in the pyruvate kinase PKLR protein where arginine has been replaced by histidine.

**Synonyms:** - NP_000289.1:p.Arg479His - NP_000289.1:p.R479H - PKLR Arg479His - PKLR NP_000289.1:p.Arg479His - PKLR R479H - PKLR R479H Mutation - PKLR p.Arg479His - PKLR p.R479H - Pyruvate Kinase 1 Arg479His - Pyruvate Kinase 1 R479H - Pyruvate Kinase Isozyme R/L Arg479His - Pyruvate Kinase Isozyme R/L R479H - Pyruvate Kinase Isozymes L/R Arg479His - Pyruvate Kinase Isozymes L/R R479H - Pyruvate Kinase Isozymes R/L Arg479His - Pyruvate Kinase Isozymes R/L R479H - Pyruvate Kinase L/R Arg479His - Pyruvate Kinase L/R R479H - Pyruvate Kinase PKLR Arg479His - Pyruvate Kinase PKLR R479H - R-Type/L-Type Pyruvate Kinase Arg479His - R-Type/L-Type Pyruvate Kinase R479H - Red Cell/Liver Pyruvate Kinase Arg479His - Red Cell/Liver Pyruvate Kinase R479H