2.1.1.67: thiopurine S-methyltransferase
This is an abbreviated version!
For detailed information about thiopurine S-methyltransferase, go to the full flat file.
Word Map on EC 2.1.1.67
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2.1.1.67
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azathioprine
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6-mercaptopurine
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bowel
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pharmacogenetics
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children
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lymphoblastic
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leukemia
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myelosuppression
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erythrocyte
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tpmt*2
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crohn
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thioguanine
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dosing
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s-methylation
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autoimmune
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marrow
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remission
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caucasian
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leukopenia
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myelotoxicity
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ulcerative
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6-methylmercaptopurine
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methotrexate
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ethnic
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inosine
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colitis
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azathioprine-induced
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medicine
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allele-specific
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interindividual
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nudt15
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5-aminosalicylic
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thiopurine-induced
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allopurinol
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pancytopenia
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neutropenia
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dihydropyrimidine
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infliximab
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drug-metabolizing
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pyrophosphohydrolase
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trimodal
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hematotoxicity
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analysis
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nudix
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pemphigus
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diagnostics
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mofetil
- 2.1.1.67
- azathioprine
- 6-mercaptopurine
- bowel
-
pharmacogenetics
- children
- lymphoblastic
- leukemia
-
myelosuppression
- erythrocyte
-
tpmt*2
- crohn
- thioguanine
-
dosing
-
s-methylation
- autoimmune
- marrow
-
remission
-
caucasian
- leukopenia
-
myelotoxicity
-
ulcerative
- 6-methylmercaptopurine
- methotrexate
-
ethnic
- inosine
- colitis
-
azathioprine-induced
- medicine
-
allele-specific
-
interindividual
-
nudt15
-
5-aminosalicylic
-
thiopurine-induced
- allopurinol
- pancytopenia
- neutropenia
- dihydropyrimidine
-
infliximab
-
drug-metabolizing
-
pyrophosphohydrolase
-
trimodal
-
hematotoxicity
- analysis
-
nudix
- pemphigus
- diagnostics
- mofetil
Reaction
Synonyms
6-thiopurine S-methyltransferase, 6-thiopurine transmethylase, mercaptopurine methyltransferase, thiopurine methyl transferase, thiopurine methyltransferase, thiopurine S-methyltransferase, thiopurine-S-methyl-transferase, TMPT, TPMT
ECTree
Advanced search results
Engineering
Engineering on EC 2.1.1.67 - thiopurine S-methyltransferase
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238G>C
460G>A
719A>G
A154T
A154T/Y240C
A154Y
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thiopurine S-methyltransferase polymorphism, G to A transition at position 460
A167G
A719G
A80P
C132Y
C212R
C216T
the mutant exhibits reduced activity compared to the wild type enzyme
E28V
G144R
G238C
G36S
G460A
G71R
H227Q
K119T
K122T
K238E
L49S
L69V
M1V
Q42E
R152A/R226A
mutant to probe, whether this residue is important for catalysis
R163H
R163P
R215H
S125L
TPMT*2
TPMT*3A
TPMT*3B
TPMT*3C
Y107D
the mutant shows less than 10% activity compared to the wild type enzyme, the variant allozyme shows a striking decrease in both immunoreactive protein level and enzyme activity after transient expression in COS-1 cells, the mutant is less stable than the wild type TPMT allozyme
Y180F
Y240C
additional information
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460G>A sequence variant of the TPMT gene, location exon 7, amino acid change A154T
A154T/Y240C
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polymorphism TPMT*3A, single nucleotide substitutions G460A and A719G
the mutant exhibits reduced activity compared to the wild type enzyme
A80P
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238G>C sequence variant of the TPMT gene, location exon 5, amino acid change A80P
A80P
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thiopurine S-methyltransferase polymorphism, G to C transition at position 238
A80P
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the mutant is substantially destabilized and shows 47% of wild type activity
the mutant exhibits reduced activity compared to the wild type enzyme
the mutant exhibits reduced activity compared to the wild type enzyme
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356A>C sequence variant of the TPMT gene, location exon 5, amino acid change K119T
L49S
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the mutant shows much greater stability comparable to that of wild type enzyme and exhibits 14% of wild type activity
R215H
the mutant shows intermediate in vivo activity compared to the wild type enzyme
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374C>T sequence variant of the TPMT gene, location exon 6, amino acid change S125L
TPMT*2
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polymorphism, single nucleotide substitution G238C, inactivating mutation
TPMT*3A
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polymorphism, single nucleotide substitutions, G460A at codon 154 and A719G at codon 240
TPMT*3B
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polymorphism, single nucleotide substitution G460A, inactivating mutation
TPMT*3C
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polymorphism, single nucleotide substitution A719G, inactivating mutation
Y180F
the mutant shows low in vivo activity compared to the wild type enzyme
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719A>G sequence variant of the TPMT gene, location exon 10, amino acid change Y240C
Y240C
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thiopurine S-methyltransferase polymorphism, A to G transition at position 719
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at least 23 single nucleotide polymorphisms in the TPMT gene have been identified that are associated with decreased or absent TPMT activity
additional information
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genetic polymorphisms of thiopurine methyltransferase are responsible for the variable expression of enzyme activity translating into variable efficacy and toxicity
additional information
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more than 20 variant alleles leading to deficient methylation phenotype have been described, four of them, TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C, account for 80-95% of low activity alleles in various populations
additional information
PCR amplification generates a DNA fragment of 197 bp spanning the TPMT*2, 12225G>C transversion, polymorphism