Protein Variants | Comment | Organism |
---|---|---|
H226R | the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia | Homo sapiens |
K51Q | the p.K51Q alteration changes the basic amino acid lysine to the uncharged polar amino acid glutamine in the ATP binding site and is expected to interfere with enzymatic function, the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia | Homo sapiens |
additional information | frame shift mutation c.80delC causes a truncated polypeptide of 64 amino acids and frame shift mutation c763_c766dupGATT results in a truncated polypeptide of 256 amino acids, the c.591G>A nucleotide substitution, located at the end of exon 4 does not result in amino acid change (p.Q197Q), but it changes the consensus splice site sequence, this is predicted to result in aberrant splicing, the frame shift mutation c.605_c.606delGA produces a premature stop codon and a truncated protein of 214 amino acids | Homo sapiens |
N46S | the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia | Homo sapiens |
R118C | the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia | Homo sapiens |
W178X | the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia | Homo sapiens |
W65X | the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia | Homo sapiens |
Y191C | the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q16854 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
liver | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
DGUOK | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutations in deoxyguanosine kinase cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus, and hypotonia | Homo sapiens |