Variant position: 49 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:
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 WQDKWVNGKTAFHQEQGHQL LKKHLDTFLKGKSGLRVFFPL
Gorilla WQDKWVNGKTAFHQEQGHQL LKKHLDTFLKGKSGLRVFFPL
Chimpanzee WQDKWVNGKTAFHQEQGHQL LKKHLDTFLKGKSGLRVFFPL
Mouse WKEKWVTRHISFHQEQGHQL LKKHLDTFLKGQSGLRVFFPL
Rat WQDKWVTRHIAFHQEQGHQL LKKHFDTFLKGQSGLRVFFPL
Bovine WQEKWVNHKTGFHQEQGHQL LKKYLDTFLKGEKALRVFFPL
Rabbit WQDKWVSHKIGFHQEQGHKL LKKHLDAFLKGESGLRVFFPL
Cat WREKWVDGKIGFHQEQGHQL LKKHLDTFLKGENVLRVFFPL
Horse WQGKWVTGKTIFHQEQGHQL LKKHLDAFLKGESGLKVFFPL
Zebrafish WENRWQEGRTGFHRSDVHNL LKANVDKLICGRREVRFFFPL
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
1 – 245 Thiopurine S-methyltransferase
40 – 40 Substrate
69 – 69 S-adenosyl-L-methionine; via carbonyl oxygen
58 – 58 N6-acetyllysine
47 – 57
Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms.
Otterness D.; Szumlanski C.; Lennard L.; Klemetsdal B.; Aarbakke J.; Park-Hah J.O.; Iven H.; Schmiegelow K.; Branum E.; O'Brien J.; Weinshilboum R.M.;
Clin. Pharmacol. Ther. 62:60-73(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-49; THR-154; PHE-180 AND CYS-240;
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;
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.