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Literature summary for 2.7.1.40 extracted from

  • van Wijk, R.; Huizinga, E.G.; van Wesel, A.C.; van Oirschot, B.A.; Hadders, M.A.; van Solinge, W.W.
    Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK (2009), Hum. Mutat., 30, 446-453.
    View publication on PubMed
Search for more literature for 2.7.1.40

Protein Variants

Protein Variants Comment Organism
A154T the mutation is associated with pyruvate kinase deficiency Homo sapiens
Arg488X the mutation is associated with pyruvate kinase deficiency Homo sapiens
G111R the mutation is associated with pyruvate kinase deficiency Homo sapiens
G165V the mutation is associated with pyruvate kinase deficiency Homo sapiens
G358E the mutation is associated with pyruvate kinase deficiency Homo sapiens
I310N the mutation is associated with pyruvate kinase deficiency Homo sapiens
I90N the mutation is associated with pyruvate kinase deficiency Homo sapiens
L272V the mutation is associated with pyruvate kinase deficiency Homo sapiens
L374P the mutation is associated with pyruvate kinase deficiency Homo sapiens
L73P the mutation is associated with pyruvate kinase deficiency Homo sapiens
R163L the mutation is associated with pyruvate kinase deficiency Homo sapiens
R40W the mutation is associated with pyruvate kinase deficiency Homo sapiens
V320L 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
-
 ?

Cofactor

Cofactor Comment Organism Structure
ADP
-
 Homo sapiens