Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15946 | 48061;48062;48063 | chr2:178617159;178617158;178617157 | chr2:179481886;179481885;179481884 |
| N2AB | 14305 | 43138;43139;43140 | chr2:178617159;178617158;178617157 | chr2:179481886;179481885;179481884 |
| N2A | 13378 | 40357;40358;40359 | chr2:178617159;178617158;178617157 | chr2:179481886;179481885;179481884 |
| N2B | 6881 | 20866;20867;20868 | chr2:178617159;178617158;178617157 | chr2:179481886;179481885;179481884 |
| Novex-1 | 7006 | 21241;21242;21243 | chr2:178617159;178617158;178617157 | chr2:179481886;179481885;179481884 |
| Novex-2 | 7073 | 21442;21443;21444 | chr2:178617159;178617158;178617157 | chr2:179481886;179481885;179481884 |
| 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/P | rs369663023  |
-0.124 | 0.896 | D | 0.791 | 0.555 | None | gnomAD-2.1.1 | 2.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.76E-05 | 0 |
| S/P | rs369663023 |
-0.124 | 0.896 | D | 0.791 | 0.555 | None | gnomAD-3.1.2 | 8.56E-05 | None | None | None | None | N | None | 0 | 0 | 1.20614E-02 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| S/P | rs369663023 |
-0.124 | 0.896 | D | 0.791 | 0.555 | None | gnomAD-4.0.0 | 2.11702E-05 | None | None | None | None | N | None | 1.3403E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.78565E-05 | 0 | 1.60823E-05 |
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 | 0.0982 | likely_benign | 0.0795 | benign | -0.611 | Destabilizing | 0.002 | N | 0.362 | neutral | N | 0.521555548 | None | None | N |
| S/C | 0.1381 | likely_benign | 0.1266 | benign | -0.535 | Destabilizing | 0.97 | D | 0.792 | deleterious | D | 0.698570242 | None | None | N |
| S/D | 0.9057 | likely_pathogenic | 0.8746 | pathogenic | -1.02 | Destabilizing | 0.617 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/E | 0.9087 | likely_pathogenic | 0.8849 | pathogenic | -0.926 | Destabilizing | 0.617 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/F | 0.8152 | likely_pathogenic | 0.7567 | pathogenic | -0.445 | Destabilizing | 0.896 | D | 0.847 | deleterious | D | 0.772333852 | None | None | N |
| S/G | 0.1601 | likely_benign | 0.1326 | benign | -0.952 | Destabilizing | 0.25 | N | 0.677 | prob.neutral | None | None | None | None | N |
| S/H | 0.8847 | likely_pathogenic | 0.8441 | pathogenic | -1.484 | Destabilizing | 0.992 | D | 0.792 | deleterious | None | None | None | None | N |
| S/I | 0.5615 | ambiguous | 0.4889 | ambiguous | 0.213 | Stabilizing | 0.739 | D | 0.824 | deleterious | None | None | None | None | N |
| S/K | 0.9635 | likely_pathogenic | 0.94 | pathogenic | -0.768 | Destabilizing | 0.617 | D | 0.694 | prob.neutral | None | None | None | None | N |
| S/L | 0.3115 | likely_benign | 0.2924 | benign | 0.213 | Stabilizing | 0.447 | N | 0.761 | deleterious | None | None | None | None | N |
| S/M | 0.4869 | ambiguous | 0.4556 | ambiguous | 0.245 | Stabilizing | 0.92 | D | 0.795 | deleterious | None | None | None | None | N |
| S/N | 0.632 | likely_pathogenic | 0.5592 | ambiguous | -1.039 | Destabilizing | 0.617 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/P | 0.922 | likely_pathogenic | 0.9192 | pathogenic | -0.025 | Destabilizing | 0.896 | D | 0.791 | deleterious | D | 0.735796965 | None | None | N |
| S/Q | 0.8707 | likely_pathogenic | 0.8316 | pathogenic | -0.973 | Destabilizing | 0.92 | D | 0.708 | prob.delet. | None | None | None | None | N |
| S/R | 0.9313 | likely_pathogenic | 0.8887 | pathogenic | -0.926 | Destabilizing | 0.85 | D | 0.801 | deleterious | None | None | None | None | N |
| S/T | 0.1439 | likely_benign | 0.1327 | benign | -0.808 | Destabilizing | 0.001 | N | 0.369 | neutral | D | 0.537739124 | None | None | N |
| S/V | 0.3894 | ambiguous | 0.326 | benign | -0.025 | Destabilizing | 0.447 | N | 0.762 | deleterious | None | None | None | None | N |
| S/W | 0.9057 | likely_pathogenic | 0.8792 | pathogenic | -0.624 | Destabilizing | 0.992 | D | 0.859 | deleterious | None | None | None | None | N |
| S/Y | 0.7998 | likely_pathogenic | 0.7456 | pathogenic | -0.269 | Destabilizing | 0.896 | D | 0.849 | deleterious | D | 0.772264004 | 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.