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Results 1 - 10 of 157 > >>
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EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.67A80P 238G>C sequence variant of the TPMT gene, location exon 5, amino acid change A80P 686157
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.67K119T 356A>C sequence variant of the TPMT gene, location exon 5, amino acid change K119T 686157
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.67S125L 374C>T sequence variant of the TPMT gene, location exon 6, amino acid change S125L 686157
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.67A154T 460G>A sequence variant of the TPMT gene, location exon 7, amino acid change A154T 686157
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.67Y240C 719A>G sequence variant of the TPMT gene, location exon 10, amino acid change Y240C 686157
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.67more at least 23 single nucleotide polymorphisms in the TPMT gene have been identified that are associated with decreased or absent TPMT activity 686505
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.67more genetic polymorphisms of thiopurine methyltransferase are responsible for the variable expression of enzyme activity translating into variable efficacy and toxicity 686328
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.67more 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 689274
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.67A154T mutant shows decreased TPMT activity 706092
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.67A154T/Y240C mutant shows decreased TPMT activity 706092
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