TRMT1

tRNA methyltransferase 1

Summary

This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID). Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome. [provided by RefSeq, May 2017]

Known Variants114 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs376828486	19:13,215,766	C/A	—	uncertain significance
rs2513064394	19:13,215,768	G/A	—	uncertain significance
rs144546583	19:13,215,787	G/C	—	uncertain significance
rs748265622	19:13,215,789	G/A	—	uncertain significance
rs1268591790	19:13,215,826	C/T	—	uncertain significance
rs577720271	19:13,215,846	G/A	—	likely benign
rs771237572	19:13,215,853	G/T	—	uncertain significance
rs766999804	19:13,215,882	C/T	—	uncertain significance
rs373766611	19:13,215,886	G/A	—	uncertain significance
rs2513065519	19:13,215,902	G/A	—	uncertain significance
rs778368877	19:13,216,081	C/T	—	uncertain significance
rs150832090	19:13,216,115	C/T	—	likely benign
rs201873417	19:13,216,125	G/A	—	uncertain significance
rs139839545	19:13,216,130	G/C	—	uncertain significance
rs151119204	19:13,216,136	T/C	—	likely benign
rs370007011	19:13,216,142	G/A	—	uncertain significance
rs918376887	19:13,216,175	C/T	—	uncertain significance
rs776654654	19:13,216,355	C/T	—	uncertain significance
rs2513068920	19:13,216,365	C/A	—	pathogenic
rs763302328	19:13,216,374	G/A	—	pathogenic
rs757797172	19:13,216,380	T/C	—	uncertain significance
rs1275654808	19:13,218,407	T/C	—	uncertain significance
rs148858467	19:13,218,417	T/C	—	likely benign
rs751298016	19:13,218,437	G/A	—	likely pathogenic
rs781032710	19:13,218,442	C/T	—	uncertain significance
rs769822915	19:13,218,443	G/A	—	uncertain significance
rs114542979	19:13,218,456	T/A	—	likely benign
rs35206121	19:13,218,462	C/T	—	likely benign
rs1568361011	19:13,218,564	C/A	—	pathogenic
rs1042996697	19:13,218,573	G/A	—	uncertain significance
rs968984822	19:13,218,575	A/G	—	uncertain significance
rs2145578013	19:13,218,584	C/T	—	likely pathogenic
rs2513078069	19:13,218,586	G/C	—	uncertain significance
rs2018949082	19:13,218,641	G/A	—	uncertain significance
rs904158240	19:13,218,648	G/A	—	uncertain significance
rs183961432	19:13,218,667	G/A	—	likely benign
rs770329038	19:13,220,195	C/T	—	uncertain significance
rs767009382	19:13,220,207	A/G	—	uncertain significance
rs2513084432	19:13,220,216	G/A	—	uncertain significance
rs1599937227	19:13,220,239	C/G	—	likely benign
rs140388340	19:13,220,247	C/T	—	uncertain significance
rs757029217	19:13,220,254	G/A	—	likely benign
rs147799611	19:13,220,284	C/T	—	likely benign
rs1381050160	19:13,220,396	G/A	—	uncertain significance
rs755464364	19:13,220,400	C/T	—	likely benign
rs149382637	19:13,220,401	G/A	—	uncertain significance
rs201679777	19:13,220,418	G/A	—	likely benign
rs1204509034	19:13,220,421	G/T	—	uncertain significance
rs138303657	19:13,220,432	C/T	—	uncertain significance
rs147243880	19:13,220,447	G/A	—	uncertain significance
rs554302349	19:13,220,448	G/A	—	likely benign
rs868782885	19:13,220,453	C/T	—	uncertain significance
rs77560275	19:13,220,506	C/T	—	likely benign
rs200029991	19:13,220,590	C/T	—	uncertain significance
rs1402479694	19:13,220,591	G/A	—	pathogenic
rs377647271	19:13,220,612	C/T	—	uncertain significance
rs2513086902	19:13,220,641	G/A	—	uncertain significance
rs1555716802	19:13,220,654	T/C	—	likely pathogenic
rs373453193	19:13,220,665	G/A	—	uncertain significance
rs35601737	19:13,220,703	C/G	—	benign
rs781092965	19:13,220,730	G/C	—	uncertain significance
rs142446751	19:13,220,734	G/A	—	likely benign
rs1225533183	19:13,220,738	G/A	—	uncertain significance
rs117741379	19:13,220,749	C/T	—	benign
rs753225455	19:13,220,757	C/T	—	uncertain significance
rs201563082	19:13,220,781	C/T	—	uncertain significance
rs139341662	19:13,220,782	G/A	—	likely benign
rs2513088108	19:13,220,784	A/G	—	uncertain significance
rs771096015	19:13,220,793	A/G	—	likely pathogenic
rs140145761	19:13,220,803	C/G	—	likely benign
rs146440296	19:13,220,807	G/A	—	uncertain significance
rs374984353	19:13,220,820	G/T	—	likely benign
rs375881785	19:13,220,963	C/G	—	uncertain significance
rs542184779	19:13,221,024	G/A	missense variant	pathogenic
rs1208523013	19:13,221,060	C/A	—	uncertain significance
rs569347918	19:13,221,063	C/T	—	uncertain significance
rs146661261	19:13,221,064	G/A	—	likely benign
rs751770404	19:13,221,080	T/C	—	uncertain significance
rs148038210	19:13,221,087	G/A	—	uncertain significance
rs776518973	19:13,221,120	C/A	—	uncertain significance
rs2513098292	19:13,223,559	T/A	—	uncertain significance
rs147062421	19:13,223,573	C/T	—	likely benign
rs759911177	19:13,223,575	T/C	—	uncertain significance
rs755833006	19:13,223,592	G/A	—	uncertain significance
rs2513099514	19:13,223,769	T/C	—	uncertain significance
rs747124149	19:13,223,783	G/C	—	uncertain significance
rs138695893	19:13,223,795	C/T	—	likely benign
rs148560960	19:13,226,094	G/A	—	uncertain significance
rs376673169	19:13,226,101	T/G	—	likely benign
rs2019293837	19:13,226,103	C/A	—	uncertain significance
rs780432685	19:13,226,111	G/A	—	uncertain significance
rs2019294247	19:13,226,115	G/A	—	pathogenic
rs2513107597	19:13,226,134	A/T	—	uncertain significance
rs1006351159	19:13,226,151	G/A	—	uncertain significance
rs143006157	19:13,226,154	G/A	—	uncertain significance
rs750468996	19:13,226,220	G/C	—	uncertain significance
rs985143890	19:13,226,228	C/G	—	uncertain significance
rs376424264	19:13,226,271	G/A	—	uncertain significance
rs1279696603	19:13,226,454	C/A	—	uncertain significance
rs143246127	19:13,226,550	C/T	—	uncertain significance

Showing 100 of 114 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.