2.1.1.2: guanidinoacetate N-methyltransferase
This is an abbreviated version!
For detailed information about guanidinoacetate N-methyltransferase, go to the full flat file.
Word Map on EC 2.1.1.2
Reaction
Synonyms
GA methylpherase, GAA methyltransferase, GAMT, guanidinoacetate methyltransferase, guanidinoacetate N-methyltransferase, guanidinoacetate transmethylase, guanidoacetate methyltransferase, methionine-guanidinoacetic transmethylase, MIM 601240, N-guanidinoacetate methyltransferase, S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase
ECTree
2.1.1.2 guanidinoacetate N-methyltransferaseAdvanced search results
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Engineering on EC 2.1.1.2 - guanidinoacetate N-methyltransferase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
A54P
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved, inactive mutant
A74P
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved, inactive mutant
C169Y
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved
D135N
naturally occuring mutation from enzyme deficiency patients, inactive mutant
G68C
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved
H147Y
naturally occuring mutation from enzyme deficiency patients, almost inactive mutant
H51P
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved
L166P
naturally occuring mutation from enzyme deficiency patients, inactive mutant
L197P
N92D
naturally occuring mutation from enzyme deficiency patients, inactive mutant
P8T
naturally occuring mutation from enzyme deficiency patients, the mutant shows similar activity as the wild-type enzyme
R208P
naturally occuring mutation from enzyme deficiency patients, almost inactive mutant
T136M
naturally occuring mutation from enzyme deficiency patients, inactive mutant
W45R
naturally occuring mutation from enzyme deficiency patients, inactive mutant
Y27H
naturally occuring mutation from enzyme deficiency patients, the mutant shows similar activity as the wild-type enzyme
E45D
decrease in kcat-value, increase in Km-value of S-adenosyl-L-methionine
E45Q
decrease in kcat-value, increase in Km-value of S-adenosyl-L-methionine
Y136F
Y136V
additional information
L197P
-
the sequencing of the guanidinoacetate N-methyltransferase gene reveals a homozygous missense mutation on exon 6, resulting in the substitution of leucine in position 197 with proline. The 13-year old girl has mental retardation, as main symptom, associated with a typical pattern of biochemical and neurochemical alterations.
L197P
naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved, inactive mutant
Y136F
-
retains considerable activity, structural changes compared to wild-type
additional information
-
finding of a novel homozygous missense mutation in exon 5, p.Leu166Pro, c.497T>C
additional information
-
mutation analysis of the guanidinoacetate methyltransferase gene is performed, the patient is found to be compound heterozygous for a known mitation in exon 2, c.327G>A, and for a novel mutation in exon 1, c170C>A
