Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 43 | 352;353;354 | chr2:178802306;178802305;178802304 | chr2:179667033;179667032;179667031 |
| N2AB | 43 | 352;353;354 | chr2:178802306;178802305;178802304 | chr2:179667033;179667032;179667031 |
| N2A | 43 | 352;353;354 | chr2:178802306;178802305;178802304 | chr2:179667033;179667032;179667031 |
| N2B | 43 | 352;353;354 | chr2:178802306;178802305;178802304 | chr2:179667033;179667032;179667031 |
| Novex-1 | 43 | 352;353;354 | chr2:178802306;178802305;178802304 | chr2:179667033;179667032;179667031 |
| Novex-2 | 43 | 352;353;354 | chr2:178802306;178802305;178802304 | chr2:179667033;179667032;179667031 |
| Novex-3 | 43 | 352;353;354 | chr2:178802306;178802305;178802304 | chr2:179667033;179667032;179667031 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | None | None | 1.0 | D | 0.699 | 0.666 | 0.899237815192 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | -0.158(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4499 | ambiguous | 0.4978 | ambiguous | -0.341 | Destabilizing | 0.999 | D | 0.588 | neutral | D | 0.605008773 | None | -0.416(TCAP) | N |
| G/C | 0.7821 | likely_pathogenic | 0.8285 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.756078693 | None | -0.158(TCAP) | N |
| G/D | 0.2567 | likely_benign | 0.3117 | benign | -0.39 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.472901565 | None | -0.241(TCAP) | N |
| G/E | 0.3245 | likely_benign | 0.4116 | ambiguous | -0.534 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | -0.347(TCAP) | N |
| G/F | 0.94 | likely_pathogenic | 0.9566 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | 0.197(TCAP) | N |
| G/H | 0.6687 | likely_pathogenic | 0.7498 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | 0.556(TCAP) | N |
| G/I | 0.8652 | likely_pathogenic | 0.9014 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | -0.487(TCAP) | N |
| G/K | 0.6255 | likely_pathogenic | 0.7114 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | -0.536(TCAP) | N |
| G/L | 0.883 | likely_pathogenic | 0.9093 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | -0.487(TCAP) | N |
| G/M | 0.8898 | likely_pathogenic | 0.9155 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | -0.193(TCAP) | N |
| G/N | 0.3307 | likely_benign | 0.3788 | ambiguous | -0.507 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | -0.47(TCAP) | N |
| G/P | 0.9926 | likely_pathogenic | 0.9946 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | -0.46(TCAP) | N |
| G/Q | 0.4467 | ambiguous | 0.5309 | ambiguous | -0.749 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | -0.419(TCAP) | N |
| G/R | 0.4666 | ambiguous | 0.5615 | ambiguous | -0.38 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.613296571 | None | -0.695(TCAP) | N |
| G/S | 0.1383 | likely_benign | 0.1567 | benign | -0.698 | Destabilizing | 1.0 | D | 0.674 | neutral | D | 0.552610423 | None | -0.232(TCAP) | N |
| G/T | 0.5411 | ambiguous | 0.598 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | -0.313(TCAP) | N |
| G/V | 0.7866 | likely_pathogenic | 0.8379 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | D | 0.722136922 | None | -0.46(TCAP) | N |
| G/W | 0.8559 | likely_pathogenic | 0.8849 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | 0.229(TCAP) | N |
| G/Y | 0.8729 | likely_pathogenic | 0.9061 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | 0.232(TCAP) | 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.