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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

Reaction

ATP
+
deoxyguanosine
=
ADP
+
dGMP

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

     2 Transferases
         2.7 Transferring phosphorus-containing groups
             2.7.1 Phosphotransferases with an alcohol group as acceptor
                2.7.1.113 deoxyguanosine kinase

Engineering

Engineering on EC 2.7.1.113 - deoxyguanosine kinase

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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
A2S
-
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
D255Y/D255Y
-
the mutation is associated with deoxyguanosine kinase deficiency
E165V
-
naturally occuring enzyme mutation involved in mitochondrial depletion syndrome
E227K
-
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
-
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
-
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
L250S/M1T
-
the mutation is associated with deoxyguanosine kinase deficiency
L266R
M1I
-
naturally occuring enzyme mutation involved in mitochondrial depletion syndrome
M1V/M1I
-
the mutation is associated with deoxyguanosine kinase deficiency
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
-
site-directed mutagenesis, mutation is naturally found in patients, low activity with dG, no activity with dA compared to the wild-type enzyme
R142K/E227K
-
the mutation is associated with deoxyguanosine kinase deficiency
S52F/S52F
-
the mutation is associated with deoxyguanosine kinase deficiency
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
D78A
-
no deoxyguanosine kinase activity
D78E
-
no deoxyguanosine kinase activity
D78N
-
no deoxyguanosine kinase activity
R79k
-
50% of wild-type deoxyguanosine kinase activity
D84A
1% of wild-type activity
D84E
41% of wild-type activity, not inhibited by dGTP and dATP
D84N
5% of wild-type activity
D84A
-
1% of wild-type activity
-
D84E
-
41% of wild-type activity, not inhibited by dGTP and dATP
-
D84N
-
5% of wild-type activity
-
additional information