2.1.1.67 238G>C TPMT variant 686167 2.1.1.67 238G>C TPMT variant, inactivating mutation in exon 5 686507 2.1.1.67 460G>A TPMT variant 686167 2.1.1.67 460G>A TPMT variant, inactivating mutation in exon 7 686507 2.1.1.67 460G>A/719A>G TPMT*3A polymorphism, low or no TPMT activity 686574 2.1.1.67 539A>T TPMT variant 686167 2.1.1.67 719A>G TPMT variant 686167 2.1.1.67 719A>G TPMT variant, inactivating mutation in exon 10 686507 2.1.1.67 A154T 460G>A sequence variant of the TPMT gene, location exon 7, amino acid change A154T 686157 2.1.1.67 A154T mutant shows decreased TPMT activity 706092 2.1.1.67 A154T polymorphism TPMT*3B 686275, 688415 2.1.1.67 A154T polymorphism TPMT*3B, single nucleotide substitution G460A 686161 2.1.1.67 A154T the mutation affects TMPT activity 703267 2.1.1.67 A154T variant TPMT*3B 689365, 689369 2.1.1.67 A154T variant TPMT*3B, G460A polymorphismus 684267 2.1.1.67 A154T/Y240C mutant shows decreased TPMT activity 706092 2.1.1.67 A154T/Y240C mutant with reduced activity 704829 2.1.1.67 A154T/Y240C polymorphism TPMT*3A 686275, 688415, 688452 2.1.1.67 A154T/Y240C polymorphism TPMT*3A, single nucleotide substitutions G460A and A719G 686161 2.1.1.67 A154T/Y240C TPMT*3A polymorphismus 684265 2.1.1.67 A154T/Y240C variant TPMT*3A 689365 2.1.1.67 A154T/Y240C/E98STOP polymorphism TPMT*3D 686275 2.1.1.67 A154Y thiopurine S-methyltransferase polymorphism, G to A transition at position 460 688807 2.1.1.67 A167G mutant shows decreased TPMT activity 706092 2.1.1.67 A167G the mutation affects TMPT activity 703267 2.1.1.67 A167G variant TPMT*23 689365 2.1.1.67 A179G/G460A the variant is associated with low enzyme activity 733706 2.1.1.67 A180P the mutation affects TMPT activity 703267 2.1.1.67 A719G the mutant exhibits reduced activity compared to the wild type enzyme 734843 2.1.1.67 A719G the variant is associated with low enzyme activity 733706 2.1.1.67 A80P 238G>C sequence variant of the TPMT gene, location exon 5, amino acid change A80P 686157 2.1.1.67 A80P mutant shows decreased TPMT activity 706092 2.1.1.67 A80P mutant with reduced activity 704829 2.1.1.67 A80P polymorphism TPMT*2 686275, 688415, 688452 2.1.1.67 A80P polymorphism TPMT*2, single nucleotide substitution G238C 686161 2.1.1.67 A80P the mutant is substantially destabilized and shows 47% of wild type activity 718942 2.1.1.67 A80P thiopurine S-methyltransferase polymorphism, G to C transition at position 238 688807 2.1.1.67 A80P TPMT*2 polymorphismus 684265 2.1.1.67 A80P variant TPMT*2 689365, 689369 2.1.1.67 C132Y mutant shows decreased TPMT activity 706092 2.1.1.67 C132Y polymorphism TPMT*11 686275 2.1.1.67 C132Y the mutation affects TMPT activity 703267 2.1.1.67 C132Y variant TPMT*11 689365 2.1.1.67 C212R mutant shows decreased TPMT activity 706092 2.1.1.67 C212R polymorphism c.634T>C, TPMT*25 685039 2.1.1.67 C216T the mutant exhibits reduced activity compared to the wild type enzyme 734843 2.1.1.67 E28V mutant shows decreased TPMT activity 706092 2.1.1.67 E28V polymorphism TPMT*13 686275 2.1.1.67 E28V the mutation affects TMPT activity 703267 2.1.1.67 E28V variant TPMT*13 689365 2.1.1.67 E98X the mutation affects TMPT activity 703267 2.1.1.67 F208L the mutation is associated with a decrease in enzyme activity 702940 2.1.1.67 G144R mutant shows decreased TPMT activity 706092 2.1.1.67 G144R polymorphism TPMT*10 686275 2.1.1.67 G144R the mutation affects TMPT activity 703267 2.1.1.67 G144R variant TPMT*10 689365 2.1.1.67 G238C the mutant exhibits reduced activity compared to the wild type enzyme 734843 2.1.1.67 G238C the variant is associated with low enzyme activity 733706 2.1.1.67 G36S mutant shows decreased TPMT activity 706092 2.1.1.67 G36S variant TPMT*24 689365 2.1.1.67 G36S/K238E polymorphism TPMT*20 686275 2.1.1.67 G460A the mutant exhibits reduced activity compared to the wild type enzyme 734843 2.1.1.67 G460A the variant is associated with low enzyme activity 733706 2.1.1.67 G71R mutant shows decreased TPMT activity 706092 2.1.1.67 G71R polymorphism TPMT*18 686275 2.1.1.67 G71R the mutation affects TMPT activity 703267 2.1.1.67 G71R variant TPMT*18 689365 2.1.1.67 H227E polymorphism TPMT*7 686275 2.1.1.67 H227Q mutant shows decreased TPMT activity 706092 2.1.1.67 H227Q the mutation affects TMPT activity 703267 2.1.1.67 H227Q variant TPMT*7 689365 2.1.1.67 K119T 356A>C sequence variant of the TPMT gene, location exon 5, amino acid change K119T 686157 2.1.1.67 K119T mutant shows decreased TPMT activity 706092 2.1.1.67 K119T polymorphism c.356A>C, TPMT*9 685039 2.1.1.67 K119T the mutation affects TMPT activity 703267 2.1.1.67 K119T variant TPMT*9 689365 2.1.1.67 K122T mutant shows normal TPMT activity 706092 2.1.1.67 K122T polymorphism TPMT*19 686275 2.1.1.67 K122T variant TPMT*19 689365 2.1.1.67 K238E mutant shows decreased TPMT activity 706092 2.1.1.67 K238E the mutation affects TMPT activity 703267 2.1.1.67 K238E variant TPMT*20 689365 2.1.1.67 L49S mutant shows decreased TPMT activity 706092 2.1.1.67 L49S polymorphism TPMT*5 686275 2.1.1.67 L49S the mutant shows much greater stability comparable to that of wild type enzyme and exhibits 14% of wild type activity 718942 2.1.1.67 L49S the mutation affects TMPT activity 703267 2.1.1.67 L49S variant TPMT*5 689365 2.1.1.67 L69V mutant shows decreased TPMT activity 706092 2.1.1.67 L69V polymorphism c.205C>G, TPMT*21 685039 2.1.1.67 L69V polymorphism TPMT*21 686275 2.1.1.67 L69V the mutation affects TMPT activity 703267 2.1.1.67 L69V variant TPMT*21 689365 2.1.1.67 M1V the mutation affects TMPT activity 703267 2.1.1.67 M1V variant TPMT*14 689365 2.1.1.67 additional information at least 23 single nucleotide polymorphisms in the TPMT gene have been identified that are associated with decreased or absent TPMT activity 686505 2.1.1.67 additional information genetic polymorphisms of thiopurine methyltransferase are responsible for the variable expression of enzyme activity translating into variable efficacy and toxicity 686328 2.1.1.67 additional information 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 2.1.1.67 additional information no amino acid substitutions in the polymorphisms TPMT*4 and TPMT*15, Met-Val substitution in the start codon of TPMT*14 686275 2.1.1.67 additional information PCR amplification generates a DNA fragment of 197 bp spanning the TPMT*2, 12225G>C transversion, polymorphism 684393 2.1.1.67 Q179H polymorphism c.537G>T, TPMT*24 685039 2.1.1.67 Q42E mutant shows decreased TPMT activity 706092 2.1.1.67 Q42E polymorphism TPMT*17 686275 2.1.1.67 Q42E the mutation affects TMPT activity 703267 2.1.1.67 Q42E variant TPMT*17 689365 2.1.1.67 R152A mutant to probe, whether this residue is important for catalysis 685254 2.1.1.67 R152A/R226A mutant to probe, whether this residue is important for catalysis 685254 2.1.1.67 R152E mutant to probe, whether this residue is important for catalysis 685254 2.1.1.67 R152H mutant to probe, whether this residue is important for catalysis 685254 2.1.1.67 R163H mutant shows decreased TPMT activity 706092 2.1.1.67 R163H polymorphism TPMT*16 686275 2.1.1.67 R163H the mutation affects TMPT activity 703267 2.1.1.67 R163H variant TPMT*16 689365 2.1.1.67 R163P mutant shows decreased TPMT activity 706092 2.1.1.67 R163P polymorphism TPMT*22 686275 2.1.1.67 R163P the mutation affects TMPT activity 703267 2.1.1.67 R163P variant TPMT*22 689365 2.1.1.67 R215H mutant shows decreased TPMT activity 706092 2.1.1.67 R215H polymorphism TPMT*8 686275 2.1.1.67 R215H the mutant shows intermediate in vivo activity compared to the wild type enzyme 755704 2.1.1.67 R215H the mutation affects TMPT activity 703267 2.1.1.67 R215H variant TPMT*8 689365 2.1.1.67 R226A mutant to probe, whether this residue is important for catalysis 685254 2.1.1.67 R226E mutant to probe, whether this residue is important for catalysis 685254 2.1.1.67 R226H mutant to probe, whether this residue is important for catalysis 685254 2.1.1.67 S125L 374C>T sequence variant of the TPMT gene, location exon 6, amino acid change S125L 686157 2.1.1.67 S125L mutant shows decreased TPMT activity 706092 2.1.1.67 S125L polymorphism TPMT*12 686275 2.1.1.67 S125L the mutation affects TMPT activity 703267 2.1.1.67 S125L variant TPMT*12 689365 2.1.1.67 TPMT*2 polymorphism, single nucleotide substitution G238C 690115 2.1.1.67 TPMT*2 polymorphism, single nucleotide substitution G238C, inactivating mutation 684276 2.1.1.67 TPMT*2 polymorphism, single nucleotide substitution, G238C at codon 80 688777 2.1.1.67 TPMT*23 polymorphism, single nucleotide substitution, C500G 689358 2.1.1.67 TPMT*3A polymorphism, single nucleotide substitutions G460A and A719G 686189, 690115 2.1.1.67 TPMT*3A polymorphism, single nucleotide substitutions, G460A and A719G 689358 2.1.1.67 TPMT*3A polymorphism, single nucleotide substitutions, G460A at codon 154 and A719G at codon 240 688777 2.1.1.67 TPMT*3B polymorphism, single nucleotide substitution G460A 684279, 690115 2.1.1.67 TPMT*3B polymorphism, single nucleotide substitution G460A, inactivating mutation 684276 2.1.1.67 TPMT*3B polymorphism, single nucleotide substitution, G460A at codon 154 688777 2.1.1.67 TPMT*3C polymorphism, single nucleotide substitution A719G 684279, 686189, 690115 2.1.1.67 TPMT*3C polymorphism, single nucleotide substitution A719G, inactivating mutation 684276 2.1.1.67 TPMT*3C polymorphism, single nucleotide substitution, A719G at codon 240 688777 2.1.1.67 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 702164 2.1.1.67 Y180F mutant shows decreased TPMT activity 706092 2.1.1.67 Y180F polymorphism TPMT*6 686275 2.1.1.67 Y180F the mutant shows low in vivo activity compared to the wild type enzyme 755704 2.1.1.67 Y180F the mutation affects TMPT activity 703267 2.1.1.67 Y180F variant TPMT*6 689365 2.1.1.67 Y240C 719A>G sequence variant of the TPMT gene, location exon 10, amino acid change Y240C 686157 2.1.1.67 Y240C mutant shows decreased TPMT activity 706092 2.1.1.67 Y240C polymorphism TPMT*3C 686275, 688415, 688452 2.1.1.67 Y240C polymorphism TPMT*3C, single nucleotide substitution A719G 686161 2.1.1.67 Y240C the mutation affects TMPT activity 703267 2.1.1.67 Y240C thiopurine S-methyltransferase polymorphism, A to G transition at position 719 688807 2.1.1.67 Y240C TPMT*3C polymorphismus 684265 2.1.1.67 Y240C variant TPMT*3C 689365, 689369 2.1.1.67 Y240C variant TPMT*3C, A719G polymorphismus 684267