Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22539 | 67840;67841;67842 | chr2:178579582;178579581;178579580 | chr2:179444309;179444308;179444307 |
| N2AB | 20898 | 62917;62918;62919 | chr2:178579582;178579581;178579580 | chr2:179444309;179444308;179444307 |
| N2A | 19971 | 60136;60137;60138 | chr2:178579582;178579581;178579580 | chr2:179444309;179444308;179444307 |
| N2B | 13474 | 40645;40646;40647 | chr2:178579582;178579581;178579580 | chr2:179444309;179444308;179444307 |
| Novex-1 | 13599 | 41020;41021;41022 | chr2:178579582;178579581;178579580 | chr2:179444309;179444308;179444307 |
| Novex-2 | 13666 | 41221;41222;41223 | chr2:178579582;178579581;178579580 | chr2:179444309;179444308;179444307 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1553622176  |
None | None | N | 0.238 | 0.101 | 0.309839678437 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/F | rs558955595 |
-1.111 | None | N | 0.329 | 0.067 | 0.381409048467 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs558955595 |
-1.111 | None | N | 0.329 | 0.067 | 0.381409048467 | gnomAD-4.0.0 | 6.84421E-07 | None | None | None | None | N | None | 2.99043E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs558955595 |
-0.352 | None | N | 0.197 | 0.041 | 0.212008924253 | gnomAD-2.1.1 | 2.87E-05 | None | None | None | None | N | None | 2.89424E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs558955595 |
-0.352 | None | N | 0.197 | 0.041 | 0.212008924253 | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 2.89533E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs558955595 |
-0.352 | None | N | 0.197 | 0.041 | 0.212008924253 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/I | rs558955595 |
-0.352 | None | N | 0.197 | 0.041 | 0.212008924253 | gnomAD-4.0.0 | 1.54964E-05 | None | None | None | None | N | None | 2.93302E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47837E-07 | 1.09806E-05 | 1.60118E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1459 | likely_benign | 0.146 | benign | -1.527 | Destabilizing | None | N | 0.238 | neutral | N | 0.484518157 | None | None | N |
| V/C | 0.686 | likely_pathogenic | 0.6974 | pathogenic | -0.997 | Destabilizing | 0.685 | D | 0.561 | neutral | None | None | None | None | N |
| V/D | 0.8112 | likely_pathogenic | 0.836 | pathogenic | -1.454 | Destabilizing | 0.177 | N | 0.687 | prob.delet. | N | 0.474610594 | None | None | N |
| V/E | 0.701 | likely_pathogenic | 0.715 | pathogenic | -1.285 | Destabilizing | 0.075 | N | 0.577 | neutral | None | None | None | None | N |
| V/F | 0.2276 | likely_benign | 0.2739 | benign | -0.847 | Destabilizing | None | N | 0.329 | neutral | N | 0.468629625 | None | None | N |
| V/G | 0.3884 | ambiguous | 0.3874 | ambiguous | -2.005 | Highly Destabilizing | 0.03 | N | 0.643 | neutral | N | 0.485384948 | None | None | N |
| V/H | 0.8301 | likely_pathogenic | 0.8587 | pathogenic | -1.545 | Destabilizing | 0.869 | D | 0.689 | prob.delet. | None | None | None | None | N |
| V/I | 0.0966 | likely_benign | 0.0994 | benign | -0.239 | Destabilizing | None | N | 0.197 | neutral | N | 0.484518157 | None | None | N |
| V/K | 0.7565 | likely_pathogenic | 0.7784 | pathogenic | -1.188 | Destabilizing | 0.221 | N | 0.574 | neutral | None | None | None | None | N |
| V/L | 0.2432 | likely_benign | 0.2814 | benign | -0.239 | Destabilizing | 0.005 | N | 0.364 | neutral | N | 0.470087422 | None | None | N |
| V/M | 0.1893 | likely_benign | 0.2093 | benign | -0.257 | Destabilizing | 0.221 | N | 0.563 | neutral | None | None | None | None | N |
| V/N | 0.6785 | likely_pathogenic | 0.7073 | pathogenic | -1.363 | Destabilizing | 0.221 | N | 0.678 | prob.neutral | None | None | None | None | N |
| V/P | 0.8945 | likely_pathogenic | 0.9047 | pathogenic | -0.636 | Destabilizing | 0.221 | N | 0.567 | neutral | None | None | None | None | N |
| V/Q | 0.6896 | likely_pathogenic | 0.7154 | pathogenic | -1.257 | Destabilizing | 0.366 | N | 0.589 | neutral | None | None | None | None | N |
| V/R | 0.6584 | likely_pathogenic | 0.6941 | pathogenic | -1.003 | Destabilizing | 0.221 | N | 0.689 | prob.delet. | None | None | None | None | N |
| V/S | 0.371 | ambiguous | 0.3896 | ambiguous | -2.013 | Highly Destabilizing | 0.039 | N | 0.55 | neutral | None | None | None | None | N |
| V/T | 0.2169 | likely_benign | 0.2382 | benign | -1.694 | Destabilizing | None | N | 0.287 | neutral | None | None | None | None | N |
| V/W | 0.8903 | likely_pathogenic | 0.9185 | pathogenic | -1.225 | Destabilizing | 0.869 | D | 0.71 | prob.delet. | None | None | None | None | N |
| V/Y | 0.6621 | likely_pathogenic | 0.7242 | pathogenic | -0.815 | Destabilizing | 0.125 | N | 0.607 | neutral | 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.