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.