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Literature summary for 2.7.1.40 extracted from

  • Kedar, P.; Hamada, T.; Warang, P.; Nadkarni, A.; Shimizu, K.; Fujji, H.; Ghosh, K.; Kanno, H.; Colah, R.
    Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes (2009), Clin. Genet., 75, 157-162.
    View publication on PubMed
Search for more literature for 2.7.1.40

Protein Variants

Protein Variants Comment Organism
A394S/R479H the mutation is associated with pyruvate kinase deficiency Homo sapiens
D331G the mutation is associated with pyruvate kinase deficiency Homo sapiens
D331G/R479H the mutation is associated with pyruvate kinase deficiency Homo sapiens
D331G/R486W the mutation is associated with pyruvate kinase deficiency Homo sapiens
D397V/R486W the mutation is associated with pyruvate kinase deficiency Homo sapiens
E407G the mutation is associated with pyruvate kinase deficiency Homo sapiens
G358R/E407K the mutation is associated with pyruvate kinase deficiency Homo sapiens
L167M/D331G the mutation is associated with pyruvate kinase deficiency Homo sapiens
R479H the mutation is associated with pyruvate kinase deficiency Homo sapiens
R479H/R486W the mutation is associated with pyruvate kinase deficiency Homo sapiens
R486W the mutation is associated with pyruvate kinase deficiency Homo sapiens
V320M/G406R the mutation is associated with pyruvate kinase deficiency Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ADP + phosphoenolpyruvate Homo sapiens
-
 ATP + pyruvate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
erythrocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ADP + phosphoenolpyruvate
-
 Homo sapiens ATP + pyruvate
-
 ?

Synonyms

Synonyms Comment Organism
phosphoenolpyruvate kinase
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ADP
-
 Homo sapiens