Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28268 | 85027;85028;85029 | chr2:178561330;178561329;178561328 | chr2:179426057;179426056;179426055 |
| N2AB | 26627 | 80104;80105;80106 | chr2:178561330;178561329;178561328 | chr2:179426057;179426056;179426055 |
| N2A | 25700 | 77323;77324;77325 | chr2:178561330;178561329;178561328 | chr2:179426057;179426056;179426055 |
| N2B | 19203 | 57832;57833;57834 | chr2:178561330;178561329;178561328 | chr2:179426057;179426056;179426055 |
| Novex-1 | 19328 | 58207;58208;58209 | chr2:178561330;178561329;178561328 | chr2:179426057;179426056;179426055 |
| Novex-2 | 19395 | 58408;58409;58410 | chr2:178561330;178561329;178561328 | chr2:179426057;179426056;179426055 |
| 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/A | None | None | 0.76 | N | 0.399 | 0.326 | 0.314417295294 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-06 | 0 | 0 |
| S/L | None | None | 0.885 | N | 0.653 | 0.398 | 0.65374614097 | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 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 | 0.1008 | likely_benign | 0.0999 | benign | -0.904 | Destabilizing | 0.76 | D | 0.399 | neutral | N | 0.484533332 | None | None | N |
| S/C | 0.1219 | likely_benign | 0.1002 | benign | -1.181 | Destabilizing | 0.128 | N | 0.401 | neutral | None | None | None | None | N |
| S/D | 0.6884 | likely_pathogenic | 0.6797 | pathogenic | -1.881 | Destabilizing | 0.998 | D | 0.557 | neutral | None | None | None | None | N |
| S/E | 0.7243 | likely_pathogenic | 0.7074 | pathogenic | -1.776 | Destabilizing | 0.998 | D | 0.566 | neutral | None | None | None | None | N |
| S/F | 0.2914 | likely_benign | 0.2758 | benign | -1.056 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | N |
| S/G | 0.1437 | likely_benign | 0.1366 | benign | -1.176 | Destabilizing | 0.976 | D | 0.438 | neutral | None | None | None | None | N |
| S/H | 0.4177 | ambiguous | 0.3716 | ambiguous | -1.509 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| S/I | 0.3243 | likely_benign | 0.3266 | benign | -0.258 | Destabilizing | 0.986 | D | 0.761 | deleterious | None | None | None | None | N |
| S/K | 0.7678 | likely_pathogenic | 0.7165 | pathogenic | -0.683 | Destabilizing | 0.998 | D | 0.535 | neutral | None | None | None | None | N |
| S/L | 0.1635 | likely_benign | 0.1656 | benign | -0.258 | Destabilizing | 0.885 | D | 0.653 | neutral | N | 0.510501627 | None | None | N |
| S/M | 0.2007 | likely_benign | 0.2064 | benign | -0.279 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| S/N | 0.2168 | likely_benign | 0.2075 | benign | -1.197 | Destabilizing | 0.998 | D | 0.558 | neutral | None | None | None | None | N |
| S/P | 0.9868 | likely_pathogenic | 0.987 | pathogenic | -0.442 | Destabilizing | 0.997 | D | 0.739 | prob.delet. | D | 0.533378822 | None | None | N |
| S/Q | 0.6178 | likely_pathogenic | 0.5756 | pathogenic | -1.269 | Destabilizing | 0.998 | D | 0.619 | neutral | None | None | None | None | N |
| S/R | 0.7221 | likely_pathogenic | 0.6516 | pathogenic | -0.659 | Destabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | N |
| S/T | 0.078 | likely_benign | 0.0796 | benign | -0.936 | Destabilizing | 0.939 | D | 0.46 | neutral | N | 0.475696391 | None | None | N |
| S/V | 0.2836 | likely_benign | 0.2888 | benign | -0.442 | Destabilizing | 0.986 | D | 0.7 | prob.neutral | None | None | None | None | N |
| S/W | 0.4682 | ambiguous | 0.4446 | ambiguous | -1.195 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2431 | likely_benign | 0.2221 | benign | -0.791 | Destabilizing | 0.998 | D | 0.776 | 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.