Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16719 | 50380;50381;50382 | chr2:178612370;178612369;178612368 | chr2:179477097;179477096;179477095 |
| N2AB | 15078 | 45457;45458;45459 | chr2:178612370;178612369;178612368 | chr2:179477097;179477096;179477095 |
| N2A | 14151 | 42676;42677;42678 | chr2:178612370;178612369;178612368 | chr2:179477097;179477096;179477095 |
| N2B | 7654 | 23185;23186;23187 | chr2:178612370;178612369;178612368 | chr2:179477097;179477096;179477095 |
| Novex-1 | 7779 | 23560;23561;23562 | chr2:178612370;178612369;178612368 | chr2:179477097;179477096;179477095 |
| Novex-2 | 7846 | 23761;23762;23763 | chr2:178612370;178612369;178612368 | chr2:179477097;179477096;179477095 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/Y | rs1416967090  |
-0.83 | 0.975 | D | 0.598 | 0.507 | 0.746976035754 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| S/Y | rs1416967090 |
-0.83 | 0.975 | D | 0.598 | 0.507 | 0.746976035754 | gnomAD-4.0.0 | 1.594E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86244E-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 | 0.0818 | likely_benign | 0.1079 | benign | -0.909 | Destabilizing | 0.002 | N | 0.239 | neutral | N | 0.478381156 | None | None | N |
| S/C | 0.2358 | likely_benign | 0.2895 | benign | -0.543 | Destabilizing | 0.98 | D | 0.557 | neutral | N | 0.482103324 | None | None | N |
| S/D | 0.9476 | likely_pathogenic | 0.9729 | pathogenic | -0.384 | Destabilizing | 0.894 | D | 0.604 | neutral | None | None | None | None | N |
| S/E | 0.9432 | likely_pathogenic | 0.9748 | pathogenic | -0.305 | Destabilizing | 0.707 | D | 0.606 | neutral | None | None | None | None | N |
| S/F | 0.6679 | likely_pathogenic | 0.7141 | pathogenic | -0.887 | Destabilizing | 0.928 | D | 0.599 | neutral | D | 0.582579018 | None | None | N |
| S/G | 0.2282 | likely_benign | 0.3007 | benign | -1.229 | Destabilizing | 0.332 | N | 0.5 | neutral | None | None | None | None | N |
| S/H | 0.8118 | likely_pathogenic | 0.8787 | pathogenic | -1.549 | Destabilizing | 0.995 | D | 0.559 | neutral | None | None | None | None | N |
| S/I | 0.7032 | likely_pathogenic | 0.712 | pathogenic | -0.139 | Destabilizing | 0.894 | D | 0.605 | neutral | None | None | None | None | N |
| S/K | 0.9844 | likely_pathogenic | 0.9941 | pathogenic | -0.486 | Destabilizing | 0.707 | D | 0.603 | neutral | None | None | None | None | N |
| S/L | 0.395 | ambiguous | 0.4306 | ambiguous | -0.139 | Destabilizing | 0.547 | D | 0.591 | neutral | None | None | None | None | N |
| S/M | 0.4617 | ambiguous | 0.5106 | ambiguous | 0.021 | Stabilizing | 0.985 | D | 0.56 | neutral | None | None | None | None | N |
| S/N | 0.4928 | ambiguous | 0.5474 | ambiguous | -0.697 | Destabilizing | 0.945 | D | 0.629 | neutral | None | None | None | None | N |
| S/P | 0.9815 | likely_pathogenic | 0.9869 | pathogenic | -0.361 | Destabilizing | 0.864 | D | 0.589 | neutral | D | 0.622174917 | None | None | N |
| S/Q | 0.805 | likely_pathogenic | 0.895 | pathogenic | -0.703 | Destabilizing | 0.945 | D | 0.635 | neutral | None | None | None | None | N |
| S/R | 0.9777 | likely_pathogenic | 0.9894 | pathogenic | -0.561 | Destabilizing | 0.894 | D | 0.597 | neutral | None | None | None | None | N |
| S/T | 0.2211 | likely_benign | 0.2299 | benign | -0.652 | Destabilizing | 0.477 | N | 0.5 | neutral | N | 0.406687948 | None | None | N |
| S/V | 0.5435 | ambiguous | 0.5807 | pathogenic | -0.361 | Destabilizing | 0.547 | D | 0.585 | neutral | None | None | None | None | N |
| S/W | 0.8956 | likely_pathogenic | 0.9253 | pathogenic | -0.896 | Destabilizing | 0.995 | D | 0.616 | neutral | None | None | None | None | N |
| S/Y | 0.6693 | likely_pathogenic | 0.7443 | pathogenic | -0.586 | Destabilizing | 0.975 | D | 0.598 | neutral | D | 0.582159671 | 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.