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Literature summary for 2.7.1.113 extracted from

  • Dimmock, D.P.; Zhang, Q.; Dionisi-Vici, C.; Carrozzo, R.; Shieh, J.; Tang, L.Y.; Truong, C.; Schmitt, E.; Sifry-Platt, M.; Lucioli, S.; Santorelli, F.M.; Ficicioglu, C.H.; Rodriguez, M.; Wierenga, K.; Enns, G.M.; Longo, N.; Lipson, M.H.; Vallance, H.; Craigen, W.J.; Scaglia, F.; Wong, L.J.
    Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase (2008), Hum. Mutat., 29, 330-331.
    View publication on PubMed

Protein Variants

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

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-

Organism

Organism UniProt Comment Textmining
Homo sapiens Q16854
-
-

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
DGUOK
-
Homo sapiens

General Information

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