MYOM2

myomesin 2

Summary

The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]

Known Variants274 total

rsidPosition (GRCh37)AllelesClassClinVar
rs104531458:1,998,875G/A—likely benign
rs10424791148:1,998,915G/A—uncertain significance
rs1403355418:1,998,937C/T—likely benign
rs3679483158:1,998,941C/T—uncertain significance
rs1499359638:1,998,956C/T—uncertain significance
rs355789898:1,998,978C/A—benign
rs1428613068:2,000,320G/A—uncertain significance
rs7631647678:2,000,380G/T—uncertain significance
rs359852188:2,000,409G/A—benign
rs350225218:2,000,428G/T—benign
rs1867363448:2,000,437C/T—likely benign
rs5527082098:2,005,521G/A—uncertain significance
rs1437205908:2,005,569C/T—benign
rs1476610438:2,005,570G/A—uncertain significance
rs348978248:2,005,572G/A—likely benign
rs1382402888:2,005,591C/G—likely benign
rs37652068:2,005,624A/G—benign
rs1417881458:2,005,746G/A—likely benign
rs7596753848:2,005,763A/G—uncertain significance
rs7583203278:2,005,780G/A—uncertain significance
rs778883498:2,005,813C/T—benign
rs1390846878:2,005,867G/A—uncertain significance
rs18187198158:2,005,879C/G—uncertain significance
rs170646188:2,005,883T/C—benign
rs1499718278:2,005,888G/A—uncertain significance
rs18187696628:2,007,274G/T—uncertain significance
rs101050648:2,007,303C/T—benign
rs1454302058:2,007,313G/A—likely benign
rs7593554858:2,007,334C/G—uncertain significance
rs3683797828:2,007,336A/G—likely benign
rs14035333528:2,007,344G/A—uncertain significance
rs7565674748:2,007,353C/G—uncertain significance
rs2019196798:2,017,388C/T—benign
rs348236008:2,017,399C/T—benign
rs170646428:2,017,415T/C—benign
rs1457137848:2,017,429C/T—uncertain significance
rs24859263298:2,017,458T/G—uncertain significance
rs2011259748:2,017,471C/T—uncertain significance
rs800041348:2,017,477T/C—uncertain significance
rs3758895978:2,017,571C/T—uncertain significance
rs1502465818:2,017,606C/G—likely benign
rs3696411988:2,020,452C/A—uncertain significance
rs24859353298:2,020,506G/A—uncertain significance
rs3711920208:2,020,507C/T—benign
rs7507956448:2,020,513G/A—likely benign
rs348423288:2,020,542C/T—benign
rs11844474908:2,020,579G/T—uncertain significance
rs22727208:2,021,421G/T—benign
rs3728663778:2,021,446C/T—uncertain significance
rs24859384838:2,021,471G/C—uncertain significance
rs3760246068:2,021,484T/C—uncertain significance
rs3677850418:2,021,501G/T—uncertain significance
rs7527087648:2,021,514C/G—uncertain significance
rs7554030268:2,021,526C/T—uncertain significance
rs7509716438:2,021,527G/T—uncertain significance
rs7751942368:2,021,544G/A—uncertain significance
rs343169948:2,021,547A/G—benign
rs1998320338:2,021,554A/T—uncertain significance
rs7588226768:2,021,562G/A—uncertain significance
rs1131015938:2,024,221A/G—uncertain significance
rs24859458818:2,024,238A/G—uncertain significance
rs1381008768:2,024,245C/T—uncertain significance
rs1454115598:2,024,250G/A—uncertain significance
rs2005991558:2,024,269A/G—uncertain significance
rs9736637328:2,024,279C/G—uncertain significance
rs1171896148:2,024,280G/A—benign
rs1996593848:2,024,284A/G—uncertain significance
rs7528481408:2,024,295G/A—uncertain significance
rs1408769328:2,024,301G/A—uncertain significance
rs2006815188:2,024,316C/T—benign
rs3689219528:2,026,858C/T—uncertain significance
rs1509032868:2,026,859C/T—uncertain significance
rs1383012598:2,026,860G/C—likely benign
rs5716418098:2,026,880C/T—uncertain significance
rs18195231618:2,026,900G/A—uncertain significance
rs1916478508:2,026,950C/G—likely benign
rs7624511148:2,026,955C/T—uncertain significance
rs7671989038:2,026,961G/A—uncertain significance
rs2009591918:2,026,978G/A—conflicting classifications of pathogenicity
rs14402918:2,027,633C/G—benign
rs1388543908:2,027,658G/A—uncertain significance
rs14744718938:2,027,679C/G—uncertain significance
rs14398274258:2,027,691G/A—uncertain significance
rs7643013958:2,033,410C/T—uncertain significance
rs7473728098:2,033,412G/A—uncertain significance
rs1427495668:2,033,415C/T—uncertain significance
rs1403773348:2,033,421A/G—uncertain significance
rs1464795068:2,033,432C/T—likely benign
rs1410437978:2,033,438C/T—likely benign
rs753187248:2,033,446G/A—benign
rs1172711218:2,033,459C/T—benign
rs1488512018:2,033,460G/A—conflicting classifications of pathogenicity
rs1922374888:2,033,487C/T—uncertain significance
rs1379237138:2,033,495G/C—likely benign
rs1440639968:2,033,500C/T—likely benign
rs1473352288:2,033,501G/A—likely benign
rs7508096528:2,033,508T/G—uncertain significance
rs3733985888:2,033,515T/C—uncertain significance
rs7553265888:2,033,726C/A——
rs348389218:2,037,836G/C—benign

Showing 100 of 274 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.