Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3082 | 9469;9470;9471 | chr2:178768075;178768074;178768073 | chr2:179632802;179632801;179632800 |
| N2AB | 3082 | 9469;9470;9471 | chr2:178768075;178768074;178768073 | chr2:179632802;179632801;179632800 |
| N2A | 3082 | 9469;9470;9471 | chr2:178768075;178768074;178768073 | chr2:179632802;179632801;179632800 |
| N2B | 3036 | 9331;9332;9333 | chr2:178768075;178768074;178768073 | chr2:179632802;179632801;179632800 |
| Novex-1 | 3036 | 9331;9332;9333 | chr2:178768075;178768074;178768073 | chr2:179632802;179632801;179632800 |
| Novex-2 | 3036 | 9331;9332;9333 | chr2:178768075;178768074;178768073 | chr2:179632802;179632801;179632800 |
| Novex-3 | 3082 | 9469;9470;9471 | chr2:178768075;178768074;178768073 | chr2:179632802;179632801;179632800 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 1.0 | D | 0.674 | 0.545 | 0.729689865996 | gnomAD-4.0.0 | 1.59056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85652E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.7395 | likely_pathogenic | 0.735 | pathogenic | -0.568 | Destabilizing | 0.997 | D | 0.382 | neutral | D | 0.611779252 | None | None | N |
| S/C | 0.9462 | likely_pathogenic | 0.9405 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.674 | neutral | D | 0.669005247 | None | None | N |
| S/D | 0.9746 | likely_pathogenic | 0.9669 | pathogenic | -0.289 | Destabilizing | 0.999 | D | 0.576 | neutral | None | None | None | None | N |
| S/E | 0.9954 | likely_pathogenic | 0.9935 | pathogenic | -0.212 | Destabilizing | 0.999 | D | 0.565 | neutral | None | None | None | None | N |
| S/F | 0.9952 | likely_pathogenic | 0.9934 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | D | 0.609821068 | None | None | N |
| S/G | 0.827 | likely_pathogenic | 0.7755 | pathogenic | -0.898 | Destabilizing | 0.999 | D | 0.451 | neutral | None | None | None | None | N |
| S/H | 0.9931 | likely_pathogenic | 0.9896 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/I | 0.9806 | likely_pathogenic | 0.9748 | pathogenic | 0.221 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| S/K | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -0.548 | Destabilizing | 0.999 | D | 0.567 | neutral | None | None | None | None | N |
| S/L | 0.9439 | likely_pathogenic | 0.9255 | pathogenic | 0.221 | Stabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| S/M | 0.9574 | likely_pathogenic | 0.9523 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| S/N | 0.852 | likely_pathogenic | 0.7765 | pathogenic | -0.719 | Destabilizing | 0.999 | D | 0.535 | neutral | None | None | None | None | N |
| S/P | 0.9965 | likely_pathogenic | 0.9953 | pathogenic | -0.005 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | D | 0.543146391 | None | None | N |
| S/Q | 0.995 | likely_pathogenic | 0.9928 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| S/R | 0.999 | likely_pathogenic | 0.9985 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| S/T | 0.4578 | ambiguous | 0.417 | ambiguous | -0.612 | Destabilizing | 0.999 | D | 0.423 | neutral | N | 0.509892553 | None | None | N |
| S/V | 0.9775 | likely_pathogenic | 0.9711 | pathogenic | -0.005 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| S/W | 0.9947 | likely_pathogenic | 0.9917 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| S/Y | 0.9913 | likely_pathogenic | 0.9868 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | D | 0.615614202 | 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.