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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|
Synonyms | Comment | Organism |
---|---|---|
DGUOK | - |
Homo sapiens |
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 |