TTN
titin
Summary
This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]
Known Variants25,911 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs370238444 | 2:179,358,746 | G/A | — | likely benign |
| rs72629800 | 2:179,390,667 | A/G | — | benign |
| rs137914394 | 2:179,390,703 | A/C | — | likely benign |
| rs72629798 | 2:179,390,724 | T/C | — | conflicting classifications of pathogenicity |
| rs772669140 | 2:179,390,771 | A/G | — | uncertain significance |
| rs752604042 | 2:179,390,820 | C/G | — | uncertain significance |
| rs886055213 | 2:179,390,826 | G/T | — | uncertain significance |
| rs998874416 | 2:179,390,841 | T/G | — | uncertain significance |
| rs72629796 | 2:179,391,075 | C/A | — | likely benign |
| rs886055214 | 2:179,391,103 | A/C | — | uncertain significance |
| rs1242028803 | 2:179,391,106 | G/A | — | uncertain significance |
| rs778009328 | 2:179,391,116 | C/T | — | uncertain significance |
| rs114788736 | 2:179,391,152 | A/T | — | conflicting classifications of pathogenicity |
| rs957184446 | 2:179,391,235 | C/T | — | uncertain significance |
| rs549242855 | 2:179,391,459 | T/C | — | conflicting classifications of pathogenicity |
| rs886055215 | 2:179,391,465 | C/T | — | uncertain significance |
| rs886055216 | 2:179,391,542 | G/C | — | uncertain significance |
| rs534998626 | 2:179,391,556 | T/C | — | uncertain significance |
| rs781617834 | 2:179,391,598 | A/C | — | uncertain significance |
| rs144026962 | 2:179,391,609 | C/G | — | likely benign |
| rs72629795 | 2:179,391,680 | C/T | — | conflicting classifications of pathogenicity |
| rs72629794 | 2:179,391,696 | G/A | — | likely benign |
| rs370597649 | 2:179,391,714 | G/A | — | conflicting classifications of pathogenicity |
| rs188728343 | 2:179,391,733 | G/T | — | conflicting classifications of pathogenicity |
| rs2154129758 | 2:179,391,740 | T/C | — | likely benign |
| rs1285918619 | 2:179,391,741 | A/G | — | uncertain significance |
| rs770506970 | 2:179,391,750 | G/A | — | uncertain significance |
| rs377439315 | 2:179,391,754 | A/G | — | conflicting classifications of pathogenicity |
| rs761091731 | 2:179,391,755 | T/C | — | uncertain significance |
| rs1060500541 | 2:179,391,758 | A/G | — | conflicting classifications of pathogenicity |
| rs1064797273 | 2:179,391,759 | T/C | — | uncertain significance |
| rs1485536370 | 2:179,391,763 | C/T | — | likely benign |
| rs2468221540 | 2:179,391,766 | A/G | — | likely benign |
| rs764418855 | 2:179,391,768 | T/G | — | uncertain significance |
| rs2468221867 | 2:179,391,775 | G/A | — | likely benign |
| rs2154129775 | 2:179,391,782 | C/T | — | uncertain significance |
| rs1259397789 | 2:179,391,789 | C/A | — | uncertain significance |
| rs2154129783 | 2:179,391,790 | A/G | — | likely benign |
| rs372653064 | 2:179,391,795 | C/T | — | uncertain significance |
| rs397517478 | 2:179,391,800 | C/A | — | conflicting classifications of pathogenicity |
| rs1323084443 | 2:179,391,802 | C/G | — | likely benign |
| rs1686706196 | 2:179,391,803 | A/T | — | uncertain significance |
| rs765869850 | 2:179,391,806 | G/A | — | uncertain significance |
| rs1686710377 | 2:179,391,812 | A/G | — | uncertain significance |
| rs780316966 | 2:179,391,815 | C/T | — | uncertain significance |
| rs2468223180 | 2:179,391,817 | A/T | — | likely benign |
| rs281864933 | 2:179,391,818 | — | — | pathogenic |
| rs727505008 | 2:179,391,818 | C/T | — | uncertain significance |
| rs1424969766 | 2:179,391,820 | A/G | — | likely benign |
| rs886042794 | 2:179,391,821 | T/C | — | uncertain significance |
| rs281864929 | 2:179,391,825 | G/A | stop gained | pathogenic |
| rs2468223913 | 2:179,391,832 | T/C | — | likely benign |
| rs780886524 | 2:179,391,834 | C/T | — | uncertain significance |
| rs747964050 | 2:179,391,835 | G/A | — | likely benign |
| rs1220326083 | 2:179,391,840 | T/C | — | uncertain significance |
| rs769667384 | 2:179,391,841 | G/A | — | likely benign |
| rs2468224379 | 2:179,391,842 | A/T | — | uncertain significance |
| rs777697301 | 2:179,391,844 | G/C | — | uncertain significance |
| rs2468224527 | 2:179,391,845 | A/G | — | uncertain significance |
| rs950902715 | 2:179,391,846 | T/A | — | uncertain significance |
| rs878854372 | 2:179,391,848 | — | — | pathogenic |
| rs267607156 | 2:179,391,848 | A/G | missense variant | pathogenic |
| rs370267738 | 2:179,391,851 | G/A | — | uncertain significance |
| rs794729572 | 2:179,391,857 | A/C | — | uncertain significance |
| rs2154129841 | 2:179,391,864 | C/A | — | uncertain significance |
| rs1009159390 | 2:179,391,871 | T/G | — | uncertain significance |
| rs281864928 | 2:179,391,875 | A/G | missense variant | pathogenic |
| rs1553476576 | 2:179,391,876 | T/C | — | uncertain significance |
| rs1686743816 | 2:179,391,877 | G/A | — | likely benign |
| rs281864931 | 2:179,391,878 | T/G | missense variant | not provided |
| rs1686745897 | 2:179,391,879 | G/A | — | uncertain significance |
| rs2154129860 | 2:179,391,880 | G/C | — | uncertain significance |
| rs1575169924 | 2:179,391,882 | A/T | — | conflicting classifications of pathogenicity |
| rs759154562 | 2:179,391,883 | C/T | — | conflicting classifications of pathogenicity |
| rs777087450 | 2:179,391,894 | C/G | — | uncertain significance |
| rs1575170120 | 2:179,391,898 | A/C | — | uncertain significance |
| rs1233232821 | 2:179,391,902 | T/C | — | uncertain significance |
| rs2154129892 | 2:179,391,904 | G/C | — | uncertain significance |
| rs2154129894 | 2:179,391,907 | T/C | — | likely benign |
| rs368277535 | 2:179,391,915 | C/T | missense variant | uncertain significance |
| rs1686762598 | 2:179,391,917 | C/T | — | uncertain significance |
| rs1575170417 | 2:179,391,918 | C/G | — | uncertain significance |
| rs1278698690 | 2:179,391,926 | C/T | — | likely pathogenic |
| rs1018591024 | 2:179,391,927 | A/G | — | uncertain significance |
| rs964393953 | 2:179,391,928 | T/C | — | likely benign |
| rs751035844 | 2:179,391,929 | G/T | — | uncertain significance |
| rs763109620 | 2:179,391,932 | A/T | — | uncertain significance |
| rs1575170744 | 2:179,391,933 | C/A | — | uncertain significance |
| rs749774302 | 2:179,391,938 | G/T | — | uncertain significance |
| rs755111765 | 2:179,391,941 | G/T | — | uncertain significance |
| rs781497669 | 2:179,391,942 | T/C | — | uncertain significance |
| rs752429003 | 2:179,391,945 | G/C | — | uncertain significance |
| rs2154129939 | 2:179,391,947 | T/G | — | uncertain significance |
| rs147293964 | 2:179,391,949 | A/G | — | conflicting classifications of pathogenicity |
| rs749277200 | 2:179,391,953 | G/T | — | uncertain significance |
| rs1558955174 | 2:179,391,954 | T/G | — | uncertain significance |
| rs193212275 | 2:179,391,962 | C/T | — | conflicting classifications of pathogenicity |
| rs1053743149 | 2:179,391,963 | A/G | — | uncertain significance |
| rs2154129959 | 2:179,391,968 | A/G | — | uncertain significance |
| rs1686792927 | 2:179,391,969 | C/G | — | uncertain significance |
Showing 100 of 25,911 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.