2.1.2.10: aminomethyltransferase
This is an abbreviated version!
For detailed information about aminomethyltransferase, go to the full flat file.
Word Map on EC 2.1.2.10
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2.1.2.10
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hyperglycinemia
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nonketotic
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photorespiratory
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photorespiration
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one-carbon
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ketotic
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hydroxymethyltransferase
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lipoamide
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medicine
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h-protein
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dimethylglycine
- 2.1.2.10
- hyperglycinemia
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nonketotic
-
photorespiratory
-
photorespiration
-
one-carbon
-
ketotic
- hydroxymethyltransferase
- lipoamide
- medicine
- h-protein
- dimethylglycine
Reaction
Synonyms
aminomethyltransferase, Amt, GCVT, glycine decarboxylase complex, glycine synthase, synthase, glycine, T protein, T-protein, T-protein component of glycine cleavage complex, tetrahydrofolate aminomethyltransferase
ECTree
2.1.2.10 aminomethyltransferaseAdvanced search results
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Engineering on EC 2.1.2.10 - aminomethyltransferase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
D96N
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site-directed mutagenesis, both the glycine cleavage and synthesis activities are reduced to 34% compared to the wild-type enzyme
D96N/Y188F
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site-directed mutagenesis, the mutations abolish both the glycine cleavage and synthesis activities
D97N
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site-directed mutagenesis, the mutation abolishes both the glycine cleavage and synthesis activities
D97N/Y188F
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site-directed mutagenesis, the mutations abolish both the glycine cleavage and synthesis activities
K75E
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mutant with 2.5fold increased Km-value for 5,10-methylenetetrahydrofolate and 8fold increased Km-value for 5,10-methylenetetrahydropteroyltetraglutamate
K81E
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mutant with 3fold increased Km-value for 5,10-methylenetetrahydrofolate and 16fold increased Km-value for 5,10-methylenetetrahydropteroyltetraglutamate
L6A
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in contrast to wild-type, quite susceptible to trypsinolysis, 4fold increase in Km-value for reduced H-protein
N113A
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site-directed mutagenesis, the mutation abolishes both the glycine cleavage and synthesis activities
N113A/R223A
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site-directed mutagenesis, the mutations abolish both the glycine cleavage and synthesis activities
N113D
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site-directed mutagenesis, the mutation abolishes both the glycine cleavage and synthesis activities
R223A
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site-directed mutagenesis, the mutation abolishes both the glycine cleavage and synthesis activities
R223K
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site-directed mutagenesis, the mutation abolishes both the glycine cleavage and synthesis activities
Y188F
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site-directed mutagenesis, both the glycine cleavage and synthesis activities are reduced to 83% compared to the wild-type enzyme
E211K
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polymorphism occurring in patients with glycine encephalopathy, NKH, method for PCR-restriction enzyme analysis
H42R
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present in many nonketotic hyperglycinemia affected members of an extended Israeli-Arab kindred
N145I
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nonketotic hyperglycinemia, substitution of conserved N, patient has servere neonatal presentation and died in the newborn period
R265H
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naturally occurring mutation in glycine encephalopathy patients and the Penan sub-population. Detection of four missense mutations (c.664C4T, c.688G4C, c.794G4A, c.826G4C) and one heterozygous deletion causing frameshift mutation (c.982delG) in AMT gene
R296H
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mutation occurring in patients with glycine encephalopathy, NKH, method for PCR-restriction enzyme analysis
R318R
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polymorphism occurring in patients with glycine encephalopathy, NKH, method for PCR-restriction enzyme analysis
R320H
S117L
naturally occuring mutation, a very rare homozygous missense mutation in AMT c.350CNT, that causes D-glyceric aciduria, but no evidence is found that D-glyceric aciduria would cause nonketotic hyperglycinemia (NKH) as a secondary phenomenon. The mutant enzyme shows 9% activity compared to wild-type. The expression of the p.Ser117Leu mutant shows a low residual enzyme activity of the glycine cleavage enzyme similar to that of the mock control
additional information
R320H
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allele frequency of 7% for R320H of T-protein in 50 patients with enzymatic confirmation of their diagnostics of nonketotic hyperglycinemia
R320H
naturally occuring mutation that causes D-glyceric aciduria, the mutant enzyme shows 13% activity compared to wild-type. The expression of the p.Arg320Hisu mutant shows a low residual enzyme activity of the glycine cleavage enzyme similar to that of the mock control. The p.Arg320His is included as the most common AMT mutation observed in NKH patients and when homozygous, is always observed in a severe phenotype
additional information
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N-terminal deletion of 7 amino acids, in contrast to wild-type, quite susceptible to trypsinolysis
additional information
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allele frequency of 3% for T-protein splice site mutation IVS7-1G-A in 50 patients with enzymatic confirmation of their diagnostics of nonketotic hyperglycinemia, mutation with a one-base deletion 183delC
additional information
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a subset of nonketotic hyperglycinemia cases is due to mutations in the gene for the T-protein
additional information
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in 14 glycine encephalopathy patients from 13 families, six patients (43%) have biallelic mutations in the AMT gene, most of which are missense mutations and family-specific
