2.7.1.113: deoxyguanosine kinase
This is an abbreviated version!
For detailed information about deoxyguanosine kinase, go to the full flat file.
Word Map on EC 2.7.1.113
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2.7.1.113
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deoxycytidine
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mtdna
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thymidine
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hepatocerebral
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deoxyribonucleoside
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deoxynucleoside
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ophthalmoplegia
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sucla2
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twinkle
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9-beta-d-arabinofuranosylguanine
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cladribine
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c10orf2
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nystagmus
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2-chlorodeoxyadenosine
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deoxyinosine
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2.7.1.74
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2-chloro-2'-deoxyadenosine
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mngie
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neurogastrointestinal
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medicine
- 2.7.1.113
- deoxycytidine
- mtdna
- thymidine
-
hepatocerebral
- deoxyribonucleoside
- deoxynucleoside
- ophthalmoplegia
- sucla2
- twinkle
- 9-beta-d-arabinofuranosylguanine
- cladribine
- c10orf2
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nystagmus
- 2-chlorodeoxyadenosine
- deoxyinosine
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2.7.1.74
- 2-chloro-2'-deoxyadenosine
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mngie
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neurogastrointestinal
- medicine
Reaction
Synonyms
(dihydroxypropoxymethyl)guanine kinase, 2'-deoxyguanosine kinase, deoxyadenosine kinase/deoxyguanosine kinase, deoxyguanosine kinase, DG kinase, DGK, dGKase, DGUOK, kinase, deoxyguanosine (phosphorylating), NTP-deoxyguanosine 5'-phosphotransferase, nucleoside triphosphate: deoxyguanosine 5'-phosphotransferase
ECTree
Advanced search results
Engineering
Engineering on EC 2.7.1.113 - deoxyguanosine kinase
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A2S
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resulting from a base change G to T at position 4, a G base change immediately after the start codon is likely to affect start codon recognition by the ribosome the patient has an additional base change G to A at position 591 results in skipping of exon 4, very low residual activity
E165V
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naturally occuring enzyme mutation involved in mitochondrial depletion syndrome
E227K
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site-directed mutagenesis, mutation is naturally found in patients, unaltered Km but very low Vmax for all substrates compared to the wild-type enzyme
F256X
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naturally occuring enzyme mutation involved in mitochondrial depletion syndrome
H226R
the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia
I43T
the mutation is associated with infantile mitochondrial DNA depletion syndrome
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
L250S
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naturally occurring mutation in a patient with mitochondrial DNA depletion syndrome, patient shows rapidly progressing, early onset fatal liver failure associated with profoundly decreased mtDNA levels in liver and, to a lesser extent, in skeletal muscle, mutation is introduced into the enzyme cDNA via site-directed mutagenesis, the mutant enzyme shows 0.5% remaining activity compared to the wild-type enzyme
L266R
M1I
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naturally occuring enzyme mutation involved in mitochondrial depletion syndrome
N46S
N46S/L266R
R105*
the mutation is associated with infantile mitochondrial DNA depletion syndrome
R118C
the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia
R142K
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site-directed mutagenesis, mutation is naturally found in patients, low activity with dG, no activity with dA compared to the wild-type enzyme
W178X
the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia
W65X
the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia
Y191C
the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia
D84E
41% of wild-type activity, not inhibited by dGTP and dATP
additional information
L266R
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father of patient with double mutant, 42 of the mean control value for 2'-deoxyguanosine, and 41 of the mean control value for 2'-deoxyadenosine
N46S
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mother and brother of patient with double mutant, 61 and 45% of the mean control value for 2'-deoxyguanosine, and 59 and 44% of the mean control value for 2'-deoxyadenosine
N46S
the mutation is associated with a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia
N46S
the mutation is associated with familial idiopathic noncirrhotic portal hypertension
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naturally occuring mutation, 14 and 10% residual activity as compared with controls with deoxyguanosine and deoxyadenosine, patient shows improved liver tests starting from age 46 month, at age 10 years clinically healthy
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C-terminally truncated mutants are catalytically inactive, naturally occuring genetic defects/mutations, overview
additional information
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duplication of bases 763 to 766 in exon 6 results in a truncated non-functional protein, very low residual activity
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
additional information
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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
additional information
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identification of deoxyguanosine kinase gene mutations. Most frequent mutation identified in patients with liver pathology is the c.3G>A substitution in the DGUOK exon 1, potentially causing a severe impairment in the synthesis of the protein, geno-y and phenotypes, overview