TNNT3

troponin T3, fast skeletal type

Summary

The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]

Known Variants223 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57425059111:1,940,829C/G—uncertain significance
rs11440723511:1,940,928G/A—likely benign
rs87975544511:1,940,989G/T—uncertain significance
rs90911611:1,941,946T/A——
rs139825611:1,943,605G/A—not provided
rs233438511:1,943,708C/T—not provided
rs11305549511:1,943,869C/T—benign
rs19989940211:1,944,112A/T—benign
rs78014386911:1,944,115A/T—uncertain significance
rs36999117911:1,944,117G/A—uncertain significance
rs96591211:1,944,202G/A—benign
rs145748412211:1,944,270C/A—likely benign
rs249433566511:1,944,277G/T—uncertain significance
rs118740998311:1,944,306C/G—likely benign
rs273450011:1,944,636A/T—benign
rs137445734111:1,944,782C/T—uncertain significance
rs213325107411:1,944,787C/A—uncertain significance
rs249436164911:1,944,790T/C—uncertain significance
rs37678665111:1,944,792C/A—uncertain significance
rs249436189911:1,944,794A/G—uncertain significance
rs102400757411:1,944,819C/T—likely benign
rs37246704511:1,944,820C/T—likely benign
rs77680303411:1,944,821G/A—likely benign
rs11468412411:1,944,854C/A—likely benign
rs11563087111:1,944,907G/A—likely benign
rs11410647311:1,945,074C/G—benign
rs374122211:1,946,092T/C—benign
rs11522483411:1,946,219C/T—benign
rs37443028411:1,946,319C/T—likely benign
rs77604976811:1,946,320G/A—uncertain significance
rs104374281411:1,946,358C/T—likely benign
rs75032936911:1,946,359C/T—likely benign
rs18072755911:1,946,386C/T—likely benign
rs75351562011:1,946,476C/T—likely benign
rs7341302011:1,946,530T/G—benign
rs54236211:1,947,425C/G—benign
rs54071011:1,947,575A/C—benign
rs7341302311:1,947,678G/A—benign
rs657895211:1,947,789G/A—benign
rs68638911:1,947,793T/C—benign
rs793726511:1,947,800C/G—benign
rs57723650811:1,947,909G/T—benign
rs20217525311:1,947,911C/T—conflicting classifications of pathogenicity
rs102021992911:1,947,918T/C—likely benign
rs249449038211:1,947,923A/G—uncertain significance
rs36893161411:1,947,943C/T—uncertain significance
rs77422128111:1,947,944G/A—uncertain significance
rs18881145111:1,947,946C/T—likely benign
rs93308807511:1,947,947G/A—likely benign
rs77195920111:1,947,949C/T—likely benign
rs77273217011:1,947,950G/A—likely benign
rs104797557311:1,947,951C/A—likely benign
rs37547218411:1,947,955C/A—likely benign
rs76459275211:1,947,958G/T—likely benign
rs712563111:1,948,186C/T—benign
rs7341302711:1,950,037G/A—benign
rs62999011:1,950,302A/G—benign
rs36832785111:1,950,330T/C—benign
rs213336572711:1,950,344T/A—uncertain significance
rs76774667611:1,950,354C/T—likely benign
rs75260316311:1,950,366C/T—likely benign
rs75147148711:1,950,367G/A—uncertain significance
rs75723474011:1,950,368C/T—uncertain significance
rs75595701911:1,950,381C/T—benign
rs140051168811:1,950,382C/T—likely benign
rs213336658211:1,950,385T/A—likely benign
rs74895808611:1,950,390G/A—likely benign
rs37219964511:1,950,393G/A—likely benign
rs11598504711:1,950,536G/T—benign
rs208991211:1,950,588A/G—benign
rs208991111:1,950,591C/T—benign
rs1182362911:1,950,647A/G—benign
rs229247311:1,950,906T/G—benign
rs229247211:1,950,923G/A—benign
rs229247111:1,950,925T/C—benign
rs75460587411:1,951,020G/A—likely benign
rs20073973811:1,951,034G/A—conflicting classifications of pathogenicity
rs77016833511:1,951,049C/T—uncertain significance
rs97899579511:1,951,067G/A—likely benign
rs18158693511:1,951,108G/C—benign
rs13990350111:1,951,114T/C—benign
rs7284674111:1,953,463C/T—likely benign
rs94055630811:1,953,679C/T—likely benign
rs19992282111:1,953,686G/A—likely benign
rs20076307911:1,953,688C/G—benign
rs53582768111:1,953,691C/G—benign
rs75923656811:1,953,733G/A—uncertain significance
rs75904908111:1,953,758A/G—likely benign
rs7750003211:1,954,792C/A—benign
rs77920895611:1,954,954A/T—uncertain significance
rs213345103211:1,954,955T/C—uncertain significance
rs19947472111:1,954,966C/Tmissense variantpathogenic
rs12143463811:1,954,967G/Amissense variantpathogenic
rs56474064711:1,954,985T/C—uncertain significance
rs249478038411:1,954,997C/A—uncertain significance
rs37591428311:1,955,004C/G—uncertain significance
rs185411812211:1,955,005G/A—uncertain significance
rs20070471611:1,955,007C/T—likely benign
rs76285526011:1,955,025G/A—likely benign
rs116843040111:1,955,028G/A—likely benign

Showing 100 of 223 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.