TPM1

tropomyosin 1

Summary

This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy and dilated cardiomyopathy 1Y. [provided by RefSeq, Jun 2022]

Known Variants724 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3809566	15:63,333,724	A/G	upstream gene variant	—
rs55962736	15:63,333,892	G/C	—	—
rs3809567	15:63,334,520	C/A	—	benign
rs3809568	15:63,334,609	C/G	—	benign
rs3825973	15:63,334,635	C/G	—	benign
rs35829897	15:63,334,688	G/C	—	benign
rs8042834	15:63,334,698	C/G	—	benign
rs879364664	15:63,334,757	A/C	—	likely benign
rs528589173	15:63,334,765	G/A	—	likely benign
rs565301907	15:63,334,790	C/T	—	likely benign
rs17525848	15:63,334,823	G/A	—	likely benign
rs2140590196	15:63,334,840	A/G	—	benign
rs541046450	15:63,334,843	G/A	—	conflicting classifications of pathogenicity
rs1032357917	15:63,334,844	G/C	—	conflicting classifications of pathogenicity
rs2140590601	15:63,334,877	T/G	—	benign
rs957045052	15:63,334,904	C/G	—	benign
rs886051319	15:63,334,915	G/A	—	uncertain significance
rs886051320	15:63,334,923	C/T	—	uncertain significance
rs530410579	15:63,334,935	G/C	—	uncertain significance
rs930569425	15:63,334,956	C/T	—	benign
rs747523720	15:63,334,981	C/T	—	uncertain significance
rs372760316	15:63,334,982	G/T	—	uncertain significance
rs1335948932	15:63,334,988	C/T	—	likely benign
rs2542411374	15:63,335,014	C/G	—	uncertain significance
rs2140593560	15:63,335,015	T/C	—	benign
rs1257687404	15:63,335,016	C/A	—	uncertain significance
rs2031418087	15:63,335,017	G/A	—	uncertain significance
rs1034848166	15:63,335,019	C/T	—	uncertain significance
rs370871307	15:63,335,022	C/A	—	uncertain significance
rs2542411530	15:63,335,024	C/T	—	uncertain significance
rs367543668	15:63,335,029	A/G	—	uncertain significance
rs1475635564	15:63,335,030	T/C	—	uncertain significance
rs1060501865	15:63,335,032	G/C	—	uncertain significance
rs1350935943	15:63,335,034	C/T	—	conflicting classifications of pathogenicity
rs2542411676	15:63,335,035	G/T	—	uncertain significance
rs2542411688	15:63,335,036	C/T	—	uncertain significance
rs2542411702	15:63,335,037	C/T	—	likely benign
rs730881148	15:63,335,038	A/G	—	uncertain significance
rs2140594119	15:63,335,043	G/A	—	likely benign
rs900504800	15:63,335,045	A/G	—	uncertain significance
rs2140594266	15:63,335,049	G/A	—	likely benign
rs2542411841	15:63,335,050	A/G	—	uncertain significance
rs397516364	15:63,335,051	T/A	missense variant	uncertain significance
rs730881149	15:63,335,053	C/A	—	uncertain significance
rs1555402931	15:63,335,054	A/T	—	uncertain significance
rs397516365	15:63,335,055	G/A	—	conflicting classifications of pathogenicity
rs868300913	15:63,335,058	G/A	—	uncertain significance
rs766883758	15:63,335,059	C/T	—	likely benign
rs2542412045	15:63,335,061	G/C	—	likely benign
rs2031426015	15:63,335,062	A/T	—	uncertain significance
rs1313549801	15:63,335,064	G/A	—	likely benign
rs1439080260	15:63,335,067	C/G	—	likely benign
rs876661210	15:63,335,068	G/T	—	conflicting classifications of pathogenicity
rs2542412135	15:63,335,071	A/G	—	uncertain significance
rs869025539	15:63,335,072	A/G	—	uncertain significance
rs199476301	15:63,335,073	G/T	—	conflicting classifications of pathogenicity
rs727504290	15:63,335,074	G/C	missense variant	pathogenic
rs755581369	15:63,335,076	G/A	—	likely benign
rs2542412241	15:63,335,077	A/C	—	uncertain significance
rs878854150	15:63,335,079	C/G	—	uncertain significance
rs2542412260	15:63,335,080	G/A	—	conflicting classifications of pathogenicity
rs730881150	15:63,335,081	C/A	—	uncertain significance
rs2542412314	15:63,335,085	G/T	—	uncertain significance
rs727504391	15:63,335,086	G/A	—	uncertain significance
rs1437698471	15:63,335,089	C/A	—	likely benign
rs730881151	15:63,335,090	G/T	missense variant	pathogenic
rs397516382	15:63,335,092	G/A	missense variant	pathogenic
rs2031431973	15:63,335,093	C/G	—	uncertain significance
rs199476302	15:63,335,095	G/C	—	uncertain significance
rs2140595470	15:63,335,096	A/C	—	uncertain significance
rs876661396	15:63,335,097	G/C	—	uncertain significance
rs2031433492	15:63,335,098	C/T	—	uncertain significance
rs2031433815	15:63,335,102	C/T	—	uncertain significance
rs1214191576	15:63,335,103	G/A	—	likely benign
rs2140595656	15:63,335,104	G/A	—	uncertain significance
rs730880234	15:63,335,105	A/G	—	uncertain significance
rs777981114	15:63,335,106	G/A	—	likely benign
rs2542412676	15:63,335,107	G/A	—	uncertain significance
rs397516391	15:63,335,110	G/A	—	uncertain significance
rs2542412761	15:63,335,111	A/C	—	uncertain significance
rs1255071660	15:63,335,113	A/C	—	uncertain significance
rs530234301	15:63,335,115	G/A	—	likely benign
rs2542412872	15:63,335,116	A/G	—	uncertain significance
rs397516396	15:63,335,119	G/A	—	uncertain significance
rs770661916	15:63,335,121	G/C	—	likely benign
rs2140596321	15:63,335,122	G/T	—	uncertain significance
rs2542413020	15:63,335,123	C/T	—	uncertain significance
rs397516397	15:63,335,125	G/A	—	uncertain significance
rs886039444	15:63,335,126	A/C	missense variant	uncertain significance
rs2140596468	15:63,335,127	A/G	—	likely benign
rs2542413105	15:63,335,128	G/A	—	uncertain significance
rs1596297347	15:63,335,131	A/G	—	uncertain significance
rs730881152	15:63,335,132	G/C	—	uncertain significance
rs1448738061	15:63,335,133	G/C	—	uncertain significance
rs1566936237	15:63,335,134	A/G	—	uncertain significance
rs1174194983	15:63,335,135	G/A	—	uncertain significance
rs2542413238	15:63,335,136	C/G	—	uncertain significance
rs199476303	15:63,335,137	A/G	—	uncertain significance
rs2140596743	15:63,335,139	G/A	—	likely benign
rs1060501863	15:63,335,140	C/G	—	uncertain significance

Showing 100 of 724 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.