DGUOK
Gene name: deoxyguanosine kinaseOMIM ID: 601465
Chromosome location: 2p13.1
Mutations
| Disease/Phenotype | Mitochondrial DNA depletion syndrome 3 |
|---|---|
| Reference transcript | NM_080916.1 |
| DNA Change | c.763_766dupGATT |
| A.A. Change | p.Phe256X |
| Exon/Intron | exon 6 |
| Mutation Type | duplication |
| Reference | Mancuso M, Filosto M, Tsujino S, Lamperti C, Shanske S, Coquet M, Desnuelle C, DiMauro S.Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. Arch Neurol. 2003 Oct;60(10):1445-7. |