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Literature summary for 2.7.1.113 extracted from

  • Dimmock, D.P.; Dunn, J.K.; Feigenbaum, A.; Rupar, A.; Horvath, R.; Freisinger, P.; Mousson de Camaret, B.; Wong, L.J.; Scaglia, F.
    Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency (2008), Liver Transpl., 14, 1480-1485.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
D255Y/D255Y the mutation is associated with deoxyguanosine kinase deficiency Homo sapiens
L250S/M1T the mutation is associated with deoxyguanosine kinase deficiency Homo sapiens
M1V/M1I the mutation is associated with deoxyguanosine kinase deficiency Homo sapiens
N46S/L266R the mutation is associated with deoxyguanosine kinase deficiency Homo sapiens
R142K/E227K the mutation is associated with deoxyguanosine kinase deficiency Homo sapiens
S52F/S52F the mutation is associated with deoxyguanosine kinase deficiency Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining

Synonyms

Synonyms Comment Organism
DGUOK
-
Homo sapiens

General Information

General Information Comment Organism
malfunction deoxyguanosine kinase deficiency is the commonest type of mitochondrial DNA depletion associated with a hepatocerebral phenotype, deoxyguanosine kinase deficiency is associated with a variable clinical phenotype, long-term survival is best predicted by the absence of profound hypotonia, significant psychomotor retardation, or nystagmus. In the presence of these features, there is increased mortality, and liver transplantation does not confer increased survival Homo sapiens