Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3197 | 9814;9815;9816 | chr2:178766495;178766494;178766493 | chr2:179631222;179631221;179631220 |
| N2AB | 3197 | 9814;9815;9816 | chr2:178766495;178766494;178766493 | chr2:179631222;179631221;179631220 |
| N2A | 3197 | 9814;9815;9816 | chr2:178766495;178766494;178766493 | chr2:179631222;179631221;179631220 |
| N2B | 3151 | 9676;9677;9678 | chr2:178766495;178766494;178766493 | chr2:179631222;179631221;179631220 |
| Novex-1 | 3151 | 9676;9677;9678 | chr2:178766495;178766494;178766493 | chr2:179631222;179631221;179631220 |
| Novex-2 | 3151 | 9676;9677;9678 | chr2:178766495;178766494;178766493 | chr2:179631222;179631221;179631220 |
| Novex-3 | 3197 | 9814;9815;9816 | chr2:178766495;178766494;178766493 | chr2:179631222;179631221;179631220 |
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 | None | None | 0.016 | N | 0.167 | 0.065 | 0.48756061301 | gnomAD-4.0.0 | 1.59056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85654E-06 | 0 | 0 |
| V/I | rs1574506119  |
None | 0.004 | N | 0.232 | 0.041 | 0.371157983038 | gnomAD-4.0.0 | 4.10461E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52042E-05 | None | 0 | 0 | 4.49669E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3206 | likely_benign | 0.3498 | ambiguous | -1.507 | Destabilizing | 0.016 | N | 0.167 | neutral | N | 0.498952886 | None | None | N |
| V/C | 0.9064 | likely_pathogenic | 0.911 | pathogenic | -0.821 | Destabilizing | 0.992 | D | 0.506 | neutral | None | None | None | None | N |
| V/D | 0.5485 | ambiguous | 0.6756 | pathogenic | -1.698 | Destabilizing | 0.85 | D | 0.611 | neutral | None | None | None | None | N |
| V/E | 0.3678 | ambiguous | 0.4354 | ambiguous | -1.593 | Destabilizing | 0.81 | D | 0.589 | neutral | N | 0.493014267 | None | None | N |
| V/F | 0.2447 | likely_benign | 0.3082 | benign | -0.96 | Destabilizing | 0.85 | D | 0.55 | neutral | None | None | None | None | N |
| V/G | 0.5616 | ambiguous | 0.6405 | pathogenic | -1.903 | Destabilizing | 0.379 | N | 0.565 | neutral | N | 0.510311447 | None | None | N |
| V/H | 0.7195 | likely_pathogenic | 0.7809 | pathogenic | -1.477 | Destabilizing | 0.992 | D | 0.597 | neutral | None | None | None | None | N |
| V/I | 0.087 | likely_benign | 0.0889 | benign | -0.469 | Destabilizing | 0.004 | N | 0.232 | neutral | N | 0.497131595 | None | None | N |
| V/K | 0.594 | likely_pathogenic | 0.7142 | pathogenic | -1.325 | Destabilizing | 0.85 | D | 0.59 | neutral | None | None | None | None | N |
| V/L | 0.3113 | likely_benign | 0.3279 | benign | -0.469 | Destabilizing | 0.08 | N | 0.376 | neutral | N | 0.500227614 | None | None | N |
| V/M | 0.182 | likely_benign | 0.2002 | benign | -0.324 | Destabilizing | 0.103 | N | 0.396 | neutral | None | None | None | None | N |
| V/N | 0.4828 | ambiguous | 0.5652 | pathogenic | -1.344 | Destabilizing | 0.85 | D | 0.623 | neutral | None | None | None | None | N |
| V/P | 0.9877 | likely_pathogenic | 0.9919 | pathogenic | -0.784 | Destabilizing | 0.92 | D | 0.612 | neutral | None | None | None | None | N |
| V/Q | 0.4542 | ambiguous | 0.5055 | ambiguous | -1.374 | Destabilizing | 0.92 | D | 0.615 | neutral | None | None | None | None | N |
| V/R | 0.5088 | ambiguous | 0.6487 | pathogenic | -0.919 | Destabilizing | 0.85 | D | 0.619 | neutral | None | None | None | None | N |
| V/S | 0.3709 | ambiguous | 0.4263 | ambiguous | -1.862 | Destabilizing | 0.447 | N | 0.521 | neutral | None | None | None | None | N |
| V/T | 0.2413 | likely_benign | 0.2696 | benign | -1.643 | Destabilizing | 0.005 | N | 0.147 | neutral | None | None | None | None | N |
| V/W | 0.898 | likely_pathogenic | 0.9335 | pathogenic | -1.342 | Destabilizing | 0.992 | D | 0.645 | neutral | None | None | None | None | N |
| V/Y | 0.7112 | likely_pathogenic | 0.7809 | pathogenic | -0.959 | Destabilizing | 0.92 | D | 0.541 | 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.