TPMT

thiopurine S-methyltransferase

Pharmacogene

Summary

This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014]

Known Variants61 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs528907381	6:18,130,485	C/T	—	uncertain significance
rs150900439	6:18,130,694	T/C	missense variant	—
rs72552736	6:18,130,725	A/C	missense variant	—
rs139392616	6:18,130,729	C/T	missense variant	—
rs1800460	6:18,130,752	A/G	missense	likely benign
rs398122996	6:18,130,758	A/T	stop gained	not provided
rs377085266	6:18,130,772	A/G	missense variant	—
rs1800462	6:18,130,918	C/G	missense	drug response
rs781105138	6:18,130,933	A/G	—	uncertain significance
rs2533912540	6:18,130,947	C/G	—	uncertain significance
rs56161402	6:18,130,993	C/T	missense variant	drug response
rs1800584	6:18,131,012	C/T	splice region variant	drug response
rs138317895	6:18,131,815	A/G	intron variant	—
rs72556347	6:18,132,136	A/G	missense variant	—
rs79901429	6:18,132,147	A/G	missense variant	—
rs75543815	6:18,133,845	T/A	missense variant	—
rs6921269	6:18,133,847	C/A	missense variant	—
rs772832951	6:18,133,870	A/G	missense variant	—
rs201695576	6:18,133,887	T/C	missense variant	drug response
rs9333570	6:18,133,890	C/T	splice acceptor variant	—
rs771757151	6:18,134,091	C/T	—	uncertain significance
rs74423290	6:18,134,115	G/C	missense variant	drug response
rs2842951	6:18,135,683	T/C	intron variant	—
rs144041067	6:18,138,969	C/G	missense variant	—
rs112339338	6:18,138,970	G/A	missense variant	—
rs72552737	6:18,139,027	C/G	missense variant	—
rs2842934	6:18,139,214	G/A	—	likely benign
rs56019966	6:18,139,272	C/T	splice region variant	drug response
rs72552738	6:18,139,689	C/T	missense variant	—
rs200220210	6:18,139,710	G/A	missense variant	—
rs12201199	6:18,139,802	A/T	intron variant	—
rs372997906	6:18,139,903	G/A	—	likely benign
rs1784107642	6:18,139,925	C/T	—	likely benign
rs760980416	6:18,139,940	C/T	—	likely benign
rs151149760	6:18,143,606	T/G	missense variant	—
rs115106679	6:18,143,622	C/T	missense variant	—
rs72552739	6:18,143,670	C/T	—	—
rs753545734	6:18,143,700	C/T	missense variant	drug response
rs111901354	6:18,143,718	G/A	missense variant	—
rs1256618794	6:18,143,728	C/A	missense variant	drug response
rs886061266	6:18,143,858	A/T	—	uncertain significance
rs1397979403	6:18,143,884	C/T	—	likely benign
rs755583154	6:18,143,899	T/G	—	uncertain significance
rs1142345	6:18,143,955	T/C	missense	likely benign
rs281874771	6:18,147,838	G/A	missense variant	—
rs777686348	6:18,147,845	C/T	missense variant	—
rs200591577	6:18,147,851	G/C	missense variant	—
rs72552740	6:18,147,910	A/G	missense variant	—
rs186214874	6:18,148,077	G/A	—	uncertain significance
rs750424422	6:18,149,022	C/T	missense variant	—
rs72552741	6:18,149,031	A/T	—	—
rs72552742	6:18,149,045	T/A	missense variant	—
rs267607275	6:18,149,126	A/G	start lost	—
rs9333569	6:18,149,127	T/C	start lost	—
rs2533958330	6:18,149,226	C/T	—	uncertain significance
rs763783722	6:18,149,228	T/C	—	uncertain significance
rs200148021	6:18,149,230	T/A	—	uncertain significance
rs1438651791	6:18,149,301	T/C	—	uncertain significance
rs762507236	6:18,149,318	G/A	—	uncertain significance
rs79050301	6:18,152,190	T/C	upstream gene variant	—
rs77032929	6:18,152,293	T/C	upstream gene variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.