Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8099 | 24520;24521;24522 | chr2:178718905;178718904;178718903 | chr2:179583632;179583631;179583630 |
| N2AB | 7782 | 23569;23570;23571 | chr2:178718905;178718904;178718903 | chr2:179583632;179583631;179583630 |
| N2A | 6855 | 20788;20789;20790 | chr2:178718905;178718904;178718903 | chr2:179583632;179583631;179583630 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | None | None | None | N | 0.297 | 0.184 | 0.0297737177859 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1194437921  |
-0.815 | 0.117 | N | 0.652 | 0.212 | 0.101711395817 | gnomAD-4.0.0 | 1.36881E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99612E-07 | 1.16028E-05 | 0 |
| S/R | rs1289470566 |
-0.408 | 0.484 | N | 0.784 | 0.308 | 0.126345400529 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87687E-04 | 0 | 0 |
| S/R | rs1289470566 |
-0.408 | 0.484 | N | 0.784 | 0.308 | 0.126345400529 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| S/R | rs1289470566 |
-0.408 | 0.484 | N | 0.784 | 0.308 | 0.126345400529 | gnomAD-4.0.0 | 2.56374E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.14001E-05 | 0 | 0 | 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 | 0.0823 | likely_benign | 0.0739 | benign | -0.876 | Destabilizing | 0.001 | N | 0.318 | neutral | None | None | None | None | N |
| S/C | 0.1446 | likely_benign | 0.1162 | benign | -0.648 | Destabilizing | 0.001 | N | 0.597 | neutral | N | 0.330280951 | None | None | N |
| S/D | 0.9731 | likely_pathogenic | 0.9627 | pathogenic | -1.737 | Destabilizing | 0.262 | N | 0.655 | neutral | None | None | None | None | N |
| S/E | 0.9843 | likely_pathogenic | 0.9801 | pathogenic | -1.51 | Destabilizing | 0.262 | N | 0.655 | neutral | None | None | None | None | N |
| S/F | 0.8623 | likely_pathogenic | 0.773 | pathogenic | -0.574 | Destabilizing | 0.555 | D | 0.831 | deleterious | None | None | None | None | N |
| S/G | 0.1612 | likely_benign | 0.1565 | benign | -1.281 | Destabilizing | None | N | 0.297 | neutral | N | 0.472754007 | None | None | N |
| S/H | 0.9512 | likely_pathogenic | 0.9413 | pathogenic | -1.558 | Destabilizing | 0.935 | D | 0.795 | deleterious | None | None | None | None | N |
| S/I | 0.6258 | likely_pathogenic | 0.5124 | ambiguous | 0.169 | Stabilizing | 0.317 | N | 0.805 | deleterious | N | 0.500996614 | None | None | N |
| S/K | 0.9965 | likely_pathogenic | 0.9956 | pathogenic | -0.259 | Destabilizing | 0.262 | N | 0.656 | neutral | None | None | None | None | N |
| S/L | 0.3717 | ambiguous | 0.2768 | benign | 0.169 | Stabilizing | 0.081 | N | 0.769 | deleterious | None | None | None | None | N |
| S/M | 0.5369 | ambiguous | 0.4529 | ambiguous | -0.05 | Destabilizing | 0.791 | D | 0.793 | deleterious | None | None | None | None | N |
| S/N | 0.7544 | likely_pathogenic | 0.6771 | pathogenic | -1.06 | Destabilizing | 0.117 | N | 0.652 | neutral | N | 0.465692067 | None | None | N |
| S/P | 0.9522 | likely_pathogenic | 0.9373 | pathogenic | -0.146 | Destabilizing | 0.555 | D | 0.798 | deleterious | None | None | None | None | N |
| S/Q | 0.9733 | likely_pathogenic | 0.9711 | pathogenic | -0.721 | Destabilizing | 0.791 | D | 0.689 | prob.neutral | None | None | None | None | N |
| S/R | 0.9922 | likely_pathogenic | 0.99 | pathogenic | -0.719 | Destabilizing | 0.484 | N | 0.784 | deleterious | N | 0.465692067 | None | None | N |
| S/T | 0.1522 | likely_benign | 0.1263 | benign | -0.659 | Destabilizing | 0.117 | N | 0.615 | neutral | N | 0.496110869 | None | None | N |
| S/V | 0.4267 | ambiguous | 0.3497 | ambiguous | -0.146 | Destabilizing | 0.081 | N | 0.761 | deleterious | None | None | None | None | N |
| S/W | 0.9525 | likely_pathogenic | 0.925 | pathogenic | -0.934 | Destabilizing | 0.935 | D | 0.843 | deleterious | None | None | None | None | N |
| S/Y | 0.8708 | likely_pathogenic | 0.8091 | pathogenic | -0.459 | Destabilizing | 0.791 | D | 0.833 | deleterious | 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.