Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18285 | 55078;55079;55080 | chr2:178602549;178602548;178602547 | chr2:179467276;179467275;179467274 |
| N2AB | 16644 | 50155;50156;50157 | chr2:178602549;178602548;178602547 | chr2:179467276;179467275;179467274 |
| N2A | 15717 | 47374;47375;47376 | chr2:178602549;178602548;178602547 | chr2:179467276;179467275;179467274 |
| N2B | 9220 | 27883;27884;27885 | chr2:178602549;178602548;178602547 | chr2:179467276;179467275;179467274 |
| Novex-1 | 9345 | 28258;28259;28260 | chr2:178602549;178602548;178602547 | chr2:179467276;179467275;179467274 |
| Novex-2 | 9412 | 28459;28460;28461 | chr2:178602549;178602548;178602547 | chr2:179467276;179467275;179467274 |
| 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/M | rs761825854  |
0.15 | 1.0 | N | 0.679 | 0.427 | 0.525205403968 | gnomAD-2.1.1 | 3.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.51E-05 | 0 |
| T/M | rs761825854 |
0.15 | 1.0 | N | 0.679 | 0.427 | 0.525205403968 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.96078E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/M | rs761825854 |
0.15 | 1.0 | N | 0.679 | 0.427 | 0.525205403968 | gnomAD-4.0.0 | 9.48576E-06 | None | None | None | None | N | None | 2.71407E-05 | 0 | None | 0 | 2.29579E-05 | None | 0 | 0 | 7.73757E-06 | 0 | 4.90084E-05 |
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 | 0.5583 | ambiguous | 0.4553 | ambiguous | -0.757 | Destabilizing | 0.999 | D | 0.495 | neutral | N | 0.519735169 | None | None | N |
| T/C | 0.8859 | likely_pathogenic | 0.811 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| T/D | 0.7591 | likely_pathogenic | 0.7043 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| T/E | 0.8553 | likely_pathogenic | 0.8033 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| T/F | 0.9148 | likely_pathogenic | 0.85 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| T/G | 0.3945 | ambiguous | 0.3103 | benign | -0.958 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/H | 0.7851 | likely_pathogenic | 0.6523 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| T/I | 0.9613 | likely_pathogenic | 0.9226 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| T/K | 0.753 | likely_pathogenic | 0.6859 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.524679629 | None | None | N |
| T/L | 0.7052 | likely_pathogenic | 0.5798 | pathogenic | -0.32 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| T/M | 0.476 | ambiguous | 0.3608 | ambiguous | 0.197 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.484124804 | None | None | N |
| T/N | 0.3739 | ambiguous | 0.279 | benign | -0.601 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| T/P | 0.9377 | likely_pathogenic | 0.9019 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.474908092 | None | None | N |
| T/Q | 0.7103 | likely_pathogenic | 0.6101 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| T/R | 0.7653 | likely_pathogenic | 0.6817 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.485275879 | None | None | N |
| T/S | 0.2681 | likely_benign | 0.1673 | benign | -0.801 | Destabilizing | 0.999 | D | 0.515 | neutral | N | 0.439290086 | None | None | N |
| T/V | 0.8788 | likely_pathogenic | 0.8088 | pathogenic | -0.436 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | N |
| T/W | 0.972 | likely_pathogenic | 0.9439 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| T/Y | 0.8814 | likely_pathogenic | 0.8041 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | 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.