Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32156 | 96691;96692;96693 | chr2:178543507;178543506;178543505 | chr2:179408234;179408233;179408232 |
| N2AB | 30515 | 91768;91769;91770 | chr2:178543507;178543506;178543505 | chr2:179408234;179408233;179408232 |
| N2A | 29588 | 88987;88988;88989 | chr2:178543507;178543506;178543505 | chr2:179408234;179408233;179408232 |
| N2B | 23091 | 69496;69497;69498 | chr2:178543507;178543506;178543505 | chr2:179408234;179408233;179408232 |
| Novex-1 | 23216 | 69871;69872;69873 | chr2:178543507;178543506;178543505 | chr2:179408234;179408233;179408232 |
| Novex-2 | 23283 | 70072;70073;70074 | chr2:178543507;178543506;178543505 | chr2:179408234;179408233;179408232 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1234684569  |
-0.012 | 1.0 | N | 0.729 | 0.423 | 0.409124616982 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/I | rs1234684569 |
-0.012 | 1.0 | N | 0.729 | 0.423 | 0.409124616982 | gnomAD-4.0.0 | 1.59179E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
| T/S | None | None | 0.999 | N | 0.531 | 0.352 | 0.280987212366 | gnomAD-4.0.0 | 1.59179E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85866E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1226 | likely_benign | 0.1072 | benign | -0.965 | Destabilizing | 0.999 | D | 0.521 | neutral | N | 0.477040398 | None | None | N |
| T/C | 0.529 | ambiguous | 0.5236 | ambiguous | -0.596 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| T/D | 0.7143 | likely_pathogenic | 0.6746 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/E | 0.7205 | likely_pathogenic | 0.6851 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/F | 0.6477 | likely_pathogenic | 0.5788 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| T/G | 0.4328 | ambiguous | 0.4013 | ambiguous | -1.291 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| T/H | 0.62 | likely_pathogenic | 0.5888 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| T/I | 0.5184 | ambiguous | 0.4557 | ambiguous | -0.168 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.519887098 | None | None | N |
| T/K | 0.7764 | likely_pathogenic | 0.7013 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| T/L | 0.2945 | likely_benign | 0.2401 | benign | -0.168 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| T/M | 0.1644 | likely_benign | 0.146 | benign | -0.034 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| T/N | 0.2969 | likely_benign | 0.2773 | benign | -0.836 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.47488274 | None | None | N |
| T/P | 0.913 | likely_pathogenic | 0.8645 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.51132633 | None | None | N |
| T/Q | 0.5854 | likely_pathogenic | 0.5398 | ambiguous | -0.818 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| T/R | 0.7317 | likely_pathogenic | 0.6325 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/S | 0.1476 | likely_benign | 0.15 | benign | -1.153 | Destabilizing | 0.999 | D | 0.531 | neutral | N | 0.47730697 | None | None | N |
| T/V | 0.3154 | likely_benign | 0.284 | benign | -0.401 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| T/W | 0.931 | likely_pathogenic | 0.9087 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| T/Y | 0.7437 | likely_pathogenic | 0.6941 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.