Variant position: 227 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 LFGKICNIRCLEKVDAFEER HKSWGIDCLFEKLYLLTEK--
Gorilla LFGKICNIRCLEKVDAFEER HKSWGIDCLFEKLYLLTEK
Chimpanzee LFGKICNIRCLEKVDAFEER HKSWGIDCLFEKLYLLTEK
Mouse LFGTKCSMQCLEEVDALEER HKAWGLDYLFEKLYLLTEK
Rat LFGTKCNMQCLEEVDALEER HKTWGVDYFFEKLYLLTEK
Bovine LFGSVCNIQCLEKVDVFEER HKSWGIDQIIERLYLFTEK
Rabbit LFDTKCKIHCLEKVDAFEER HKSWGIDYIFEKLYLLTEK
Cat LFGSTCNIHCLEKVDVFEER HKSWGIDYIVEKLYLLTEK
Horse LFDSVCNIRCLEKVDALEER HKSWGIDYLVETLYLFTEK
Zebrafish VFGGSCNIDLLQSVDGFEEK HRSWGLDSLTEKLYLLTTK
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
225 – 230
Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis.
Spire-Vayron de la Moureyre C.; Debuysere H.; Sabbagh N.; Marez D.; Vinner E.; Chevalier E.D.; Lo-Guidice J.-M.; Broly F.;
Hum. Mutat. 12:177-185(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 210-245; VARIANT GLN-227;
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.