Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2774 | 8545;8546;8547 | chr2:178770472;178770471;178770470 | chr2:179635199;179635198;179635197 |
| N2AB | 2774 | 8545;8546;8547 | chr2:178770472;178770471;178770470 | chr2:179635199;179635198;179635197 |
| N2A | 2774 | 8545;8546;8547 | chr2:178770472;178770471;178770470 | chr2:179635199;179635198;179635197 |
| N2B | 2728 | 8407;8408;8409 | chr2:178770472;178770471;178770470 | chr2:179635199;179635198;179635197 |
| Novex-1 | 2728 | 8407;8408;8409 | chr2:178770472;178770471;178770470 | chr2:179635199;179635198;179635197 |
| Novex-2 | 2728 | 8407;8408;8409 | chr2:178770472;178770471;178770470 | chr2:179635199;179635198;179635197 |
| Novex-3 | 2774 | 8545;8546;8547 | chr2:178770472;178770471;178770470 | chr2:179635199;179635198;179635197 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | None | None | 0.999 | D | 0.457 | 0.469 | 0.297375071883 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85647E-06 | 0 | 0 |
| E/K | None | 0.574 | 0.999 | D | 0.587 | 0.495 | 0.501559347837 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| E/K | None | 0.574 | 0.999 | D | 0.587 | 0.495 | 0.501559347837 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 1.30907E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | None | 0.574 | 0.999 | D | 0.587 | 0.495 | 0.501559347837 | gnomAD-4.0.0 | 1.15249E-05 | None | None | None | None | I | None | 0 | 3.38926E-05 | None | 0 | 1.21224E-04 | None | 0 | 0 | 2.39169E-06 | 1.33994E-05 | 0 |
| E/Q | rs763666119  |
0.19 | 1.0 | N | 0.599 | 0.438 | 0.385578977469 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| E/Q | rs763666119 |
0.19 | 1.0 | N | 0.599 | 0.438 | 0.385578977469 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/Q | rs763666119 |
0.19 | 1.0 | N | 0.599 | 0.438 | 0.385578977469 | gnomAD-4.0.0 | 6.57065E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5789 | likely_pathogenic | 0.6418 | pathogenic | -0.12 | Destabilizing | 0.999 | D | 0.629 | neutral | N | 0.50993017 | None | None | I |
| E/C | 0.9928 | likely_pathogenic | 0.9921 | pathogenic | -0.04 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| E/D | 0.7353 | likely_pathogenic | 0.7986 | pathogenic | -0.227 | Destabilizing | 0.999 | D | 0.457 | neutral | D | 0.562976438 | None | None | I |
| E/F | 0.9943 | likely_pathogenic | 0.9961 | pathogenic | -0.144 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| E/G | 0.6808 | likely_pathogenic | 0.7349 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.618 | neutral | D | 0.605572541 | None | None | I |
| E/H | 0.9752 | likely_pathogenic | 0.9793 | pathogenic | 0.324 | Stabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | I |
| E/I | 0.9537 | likely_pathogenic | 0.9567 | pathogenic | 0.169 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| E/K | 0.7559 | likely_pathogenic | 0.794 | pathogenic | 0.467 | Stabilizing | 0.999 | D | 0.587 | neutral | D | 0.53660314 | None | None | I |
| E/L | 0.973 | likely_pathogenic | 0.9785 | pathogenic | 0.169 | Stabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| E/M | 0.9509 | likely_pathogenic | 0.9599 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | I |
| E/N | 0.8868 | likely_pathogenic | 0.9006 | pathogenic | 0.22 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | I |
| E/P | 0.9927 | likely_pathogenic | 0.995 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| E/Q | 0.5528 | ambiguous | 0.5794 | pathogenic | 0.24 | Stabilizing | 1.0 | D | 0.599 | neutral | N | 0.514247392 | None | None | I |
| E/R | 0.8784 | likely_pathogenic | 0.8941 | pathogenic | 0.642 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| E/S | 0.7012 | likely_pathogenic | 0.7492 | pathogenic | 0.081 | Stabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | I |
| E/T | 0.8147 | likely_pathogenic | 0.8107 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| E/V | 0.8746 | likely_pathogenic | 0.8846 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.663 | neutral | N | 0.512280457 | None | None | I |
| E/W | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -0.077 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| E/Y | 0.9907 | likely_pathogenic | 0.9934 | pathogenic | 0.082 | Stabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | I |
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.