Sequence information
Variant position: 215 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:
PPFYVPHAEIERLFGKICNI
R CLEKVDAFEERHKSWGIDCL
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 PPFYVPHAEIERLFGKICNIR CLEKVDAFEERHKSWGIDCL
Gorilla PPFYVPHAEIERLFGKICNIR CLEKVDAFEERHKSWGIDCL
PPFYVPEAEIKKLFGSICNIH CLEKVDVFEEQHKSWGIDYI
Chimpanzee PPFYVPHAEIERLFGKICNIR CLEKVDAFEERHKSWGIDCL
Mouse PPFYVPSAELKRLFGTKCSMQ CLEEVDALEERHKAWGLDYL
Rat PPFYVPDAELKKLFGTKCNMQ CLEEVDALEERHKTWGVDYF
Bovine PPFYVTDGEVKKLFGSVCNIQ CLEKVDVFEERHKSWGIDQI
Rabbit PPFYVPDAEIKMLFDTKCKIH CLEKVDAFEERHKSWGIDYI
Cat PPFYVPDAEIKNLFGSTCNIH CLEKVDVFEERHKSWGIDYI
Horse PPFFVSDAEVKRLFDSVCNIR CLEKVDALEERHKSWGIDYL
Zebrafish PPFFVSEDDIKTVFGGSCNID LLQSVDGFEEKHRSWGLDSL
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
Beta strand
212 – 221
Literature citations
Polymorphism of the thiopurine S-methyltransferase gene in African-Americans.
Hon Y.Y.; Fessing M.Y.; Pui C.-H.; Relling M.V.; Krynetski E.Y.; Evans W.E.;
Hum. Mol. Genet. 8:371-376(1999)
Cited for: VARIANT HIS-215;
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;
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.