Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3165 | 9718;9719;9720 | chr2:178766591;178766590;178766589 | chr2:179631318;179631317;179631316 |
| N2AB | 3165 | 9718;9719;9720 | chr2:178766591;178766590;178766589 | chr2:179631318;179631317;179631316 |
| N2A | 3165 | 9718;9719;9720 | chr2:178766591;178766590;178766589 | chr2:179631318;179631317;179631316 |
| N2B | 3119 | 9580;9581;9582 | chr2:178766591;178766590;178766589 | chr2:179631318;179631317;179631316 |
| Novex-1 | 3119 | 9580;9581;9582 | chr2:178766591;178766590;178766589 | chr2:179631318;179631317;179631316 |
| Novex-2 | 3119 | 9580;9581;9582 | chr2:178766591;178766590;178766589 | chr2:179631318;179631317;179631316 |
| Novex-3 | 3165 | 9718;9719;9720 | chr2:178766591;178766590;178766589 | chr2:179631318;179631317;179631316 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | None | None | 0.801 | N | 0.603 | 0.247 | 0.672219426627 | gnomAD-4.0.0 | 1.20043E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31263E-06 | 0 | 0 |
| V/I | None | None | 0.625 | N | 0.617 | 0.134 | 0.30212335484 | gnomAD-4.0.0 | 6.8416E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65596E-05 |
| V/L | None | None | 0.625 | N | 0.633 | 0.156 | 0.246773566709 | gnomAD-4.0.0 | 1.36832E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79874E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3512 | ambiguous | 0.2871 | benign | -1.54 | Destabilizing | 0.625 | D | 0.549 | neutral | N | 0.338717875 | None | None | N |
| V/C | 0.9253 | likely_pathogenic | 0.9059 | pathogenic | -0.902 | Destabilizing | 0.998 | D | 0.565 | neutral | None | None | None | None | N |
| V/D | 0.7938 | likely_pathogenic | 0.8168 | pathogenic | -1.661 | Destabilizing | 0.669 | D | 0.601 | neutral | N | 0.350420528 | None | None | N |
| V/E | 0.4977 | ambiguous | 0.5315 | ambiguous | -1.572 | Destabilizing | 0.016 | N | 0.468 | neutral | None | None | None | None | N |
| V/F | 0.4268 | ambiguous | 0.449 | ambiguous | -0.975 | Destabilizing | 0.989 | D | 0.556 | neutral | N | 0.330308601 | None | None | N |
| V/G | 0.6962 | likely_pathogenic | 0.6625 | pathogenic | -1.926 | Destabilizing | 0.801 | D | 0.603 | neutral | N | 0.35087159 | None | None | N |
| V/H | 0.8908 | likely_pathogenic | 0.891 | pathogenic | -1.396 | Destabilizing | 0.993 | D | 0.687 | prob.neutral | None | None | None | None | N |
| V/I | 0.101 | likely_benign | 0.106 | benign | -0.537 | Destabilizing | 0.625 | D | 0.617 | neutral | N | 0.342150714 | None | None | N |
| V/K | 0.7906 | likely_pathogenic | 0.8021 | pathogenic | -1.372 | Destabilizing | 0.728 | D | 0.581 | neutral | None | None | None | None | N |
| V/L | 0.4066 | ambiguous | 0.4061 | ambiguous | -0.537 | Destabilizing | 0.625 | D | 0.633 | neutral | N | 0.336418857 | None | None | N |
| V/M | 0.2204 | likely_benign | 0.2234 | benign | -0.417 | Destabilizing | 0.991 | D | 0.581 | neutral | None | None | None | None | N |
| V/N | 0.6799 | likely_pathogenic | 0.6798 | pathogenic | -1.354 | Destabilizing | 0.949 | D | 0.665 | neutral | None | None | None | None | N |
| V/P | 0.989 | likely_pathogenic | 0.9813 | pathogenic | -0.84 | Destabilizing | 0.974 | D | 0.627 | neutral | None | None | None | None | N |
| V/Q | 0.6517 | likely_pathogenic | 0.646 | pathogenic | -1.408 | Destabilizing | 0.904 | D | 0.627 | neutral | None | None | None | None | N |
| V/R | 0.7481 | likely_pathogenic | 0.7561 | pathogenic | -0.924 | Destabilizing | 0.949 | D | 0.671 | neutral | None | None | None | None | N |
| V/S | 0.4712 | ambiguous | 0.4261 | ambiguous | -1.873 | Destabilizing | 0.728 | D | 0.603 | neutral | None | None | None | None | N |
| V/T | 0.2779 | likely_benign | 0.2565 | benign | -1.667 | Destabilizing | 0.029 | N | 0.338 | neutral | None | None | None | None | N |
| V/W | 0.9557 | likely_pathogenic | 0.9534 | pathogenic | -1.297 | Destabilizing | 0.998 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/Y | 0.8693 | likely_pathogenic | 0.866 | pathogenic | -0.945 | Destabilizing | 0.991 | D | 0.564 | neutral | 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.