Sequence information
Variant position: 80 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 245 The length of the canonical sequence.
Location on the sequence:
KSGLRVFFPLCGKAVEMKWF
A DRGHSVVGVEISELGIQEFF
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KSGLRVFFPLCGKAVEMKWFA DRGHSVVGVEISELGIQEFF
Gorilla KSGLRVFFPLCGKAVEMKWFA DRGHSVVGVEISELGIQEFF
ENGLRVFFPLCGKAVEMKWFA DRGHSVVGVEISELGIREFF
Chimpanzee KSGLRVFFPLCGKAVEMKWFA DRGHSVVGVEISELGIREFF
Mouse QSGLRVFFPLCGKAIEMKWFA DRGHTVVGVEISEIGIREFF
Rat QSGLRVFFPLCGKAIEMKWFA DRGHTVVGVEISEIGIREFF
Bovine EKALRVFFPLCGKAVEMKWFA DRGHSVVGVEISELGIRDFF
Rabbit ESGLRVFFPLCGKAVEMKWFA DRGHSVVGVEISELGIREFF
Cat ENVLRVFFPLCGKAVEMKWFA DRGHCVVGVEISELGIREFF
Horse ESGLKVFFPLCGKAVEMKWFA DRGHSVVGVEISELGIREFF
Zebrafish RREVRFFFPLCGKAVDMKWLA DMGHTVVGVEFSEKGIKEFS
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 245
Thiopurine S-methyltransferase
Binding site
69 – 69
S-adenosyl-L-methionine; via carbonyl oxygen
Binding site
90 – 90
S-adenosyl-L-methionine
Helix
75 – 81
Literature citations
A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase.
Krynetski E.Y.; Schuetz J.D.; Galpin A.J.; Pui C.-H.; Relling M.V.; Evans W.E.;
Proc. Natl. Acad. Sci. U.S.A. 92:949-953(1995)
Cited for: VARIANT PRO-80;
Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): mechanisms for the genetic polymorphism of TPMT activity.
Tai H.-L.; Krynetski E.Y.; Schuetz E.G.; Yanishevski Y.; Evans W.E.;
Proc. Natl. Acad. Sci. U.S.A. 94:6444-6449(1997)
Cited for: CHARACTERIZATION OF VARIANTS PRO-80 AND THR-154; MECHANISM FOR THE GENETIC POLYMORPHISM OF TPMT ACTIVITY;
Thiopurine methyltransferase alleles in British and Ghanaian populations.
Ameyaw M.-M.; Collie-Duguid E.S.R.; Powrie R.H.; Ofori-Adjei D.; McLeod H.L.;
Hum. Mol. Genet. 8:367-370(1999)
Cited for: VARIANTS PRO-80; THR-154 AND CYS-240;
The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations.
Collie-Duguid E.S.R.; Pritchard S.C.; Powrie R.H.; Sludden J.; Collier D.A.; Li T.; McLeod H.L.;
Pharmacogenetics 9:37-42(1999)
Cited for: VARIANTS PRO-80; THR-154 AND CYS-240; FREQUENCY AND DISTRIBUTION OF ALLELES;
Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population.
Hiratsuka M.; Inoue T.; Omori F.; Agatsuma Y.; Mizugaki M.;
Mutat. Res. 448:91-95(2000)
Cited for: VARIANTS PRO-80; THR-154 AND CYS-240; FREQUENCY AND DISTRIBUTION OF ALLELES;
Thiopurine S-methyltransferase pharmacogenetics: variant allele functional and comparative genomics.
Salavaggione O.E.; Wang L.; Wiepert M.; Yee V.C.; Weinshilboum R.M.;
Pharmacogenet. Genomics 15:801-815(2005)
Cited for: VARIANTS SER-49; PRO-80; THR-154; PHE-180; HIS-215; GLN-227 AND CYS-240; CHARACTERIZATION OF VARIANTS SER-49; PRO-80; THR-154; PHE-180; HIS-215; GLN-227 AND CYS-240;
Molecular analysis of thiopurine S-methyltransferase alleles in Taiwan aborigines and Taiwanese.
Lu H.-F.; Shih M.-C.; Chang Y.-S.; Chang J.-Y.; Ko Y.-C.; Chang S.-J.; Chang J.-G.;
J. Clin. Pharm. Ther. 31:93-98(2006)
Cited for: VARIANTS PRO-80; THR-154 AND CYS-240; FREQUENCY AND DISTRIBUTION OF ALLELES;
Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia.
Rossino R.; Vincis C.; Alves S.; Prata M.J.; Macis M.D.; Nucaro A.L.; Schirru E.; Congia M.;
J. Clin. Pharm. Ther. 31:283-287(2006)
Cited for: VARIANTS PRO-80; THR-154 AND CYS-240; FREQUENCY AND DISTRIBUTION OF ALLELES;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.