Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3006 | 9241;9242;9243 | chr2:178768820;178768819;178768818 | chr2:179633547;179633546;179633545 |
| N2AB | 3006 | 9241;9242;9243 | chr2:178768820;178768819;178768818 | chr2:179633547;179633546;179633545 |
| N2A | 3006 | 9241;9242;9243 | chr2:178768820;178768819;178768818 | chr2:179633547;179633546;179633545 |
| N2B | 2960 | 9103;9104;9105 | chr2:178768820;178768819;178768818 | chr2:179633547;179633546;179633545 |
| Novex-1 | 2960 | 9103;9104;9105 | chr2:178768820;178768819;178768818 | chr2:179633547;179633546;179633545 |
| Novex-2 | 2960 | 9103;9104;9105 | chr2:178768820;178768819;178768818 | chr2:179633547;179633546;179633545 |
| Novex-3 | 3006 | 9241;9242;9243 | chr2:178768820;178768819;178768818 | chr2:179633547;179633546;179633545 |
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/M | rs778118930  |
-0.252 | 1.0 | D | 0.624 | 0.278 | 0.503868428259 | gnomAD-2.1.1 | 1.59E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30676E-04 | None | 0 | 0 | 0 |
| V/M | rs778118930 |
-0.252 | 1.0 | D | 0.624 | 0.278 | 0.503868428259 | gnomAD-4.0.0 | 6.84091E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99297E-07 | 1.04341E-04 | 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 | 0.3544 | ambiguous | 0.3442 | ambiguous | -0.55 | Destabilizing | 0.999 | D | 0.499 | neutral | N | 0.503749788 | None | None | N |
| V/C | 0.8646 | likely_pathogenic | 0.9125 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| V/D | 0.6634 | likely_pathogenic | 0.6851 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/E | 0.4648 | ambiguous | 0.471 | ambiguous | -0.464 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.477838696 | None | None | N |
| V/F | 0.2536 | likely_benign | 0.3002 | benign | -0.651 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| V/G | 0.5286 | ambiguous | 0.5365 | ambiguous | -0.694 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.605103229 | None | None | N |
| V/H | 0.7538 | likely_pathogenic | 0.7988 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| V/I | 0.0759 | likely_benign | 0.077 | benign | -0.313 | Destabilizing | 0.998 | D | 0.435 | neutral | None | None | None | None | N |
| V/K | 0.5037 | ambiguous | 0.547 | ambiguous | -0.568 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| V/L | 0.3526 | ambiguous | 0.3596 | ambiguous | -0.313 | Destabilizing | 0.997 | D | 0.496 | neutral | N | 0.498913073 | None | None | N |
| V/M | 0.1627 | likely_benign | 0.1631 | benign | -0.461 | Destabilizing | 1.0 | D | 0.624 | neutral | D | 0.540229354 | None | None | N |
| V/N | 0.4225 | ambiguous | 0.4362 | ambiguous | -0.396 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/P | 0.9855 | likely_pathogenic | 0.9864 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| V/Q | 0.4418 | ambiguous | 0.4582 | ambiguous | -0.609 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/R | 0.4779 | ambiguous | 0.5488 | ambiguous | -0.025 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/S | 0.4361 | ambiguous | 0.4293 | ambiguous | -0.758 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| V/T | 0.2908 | likely_benign | 0.2854 | benign | -0.752 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| V/W | 0.9108 | likely_pathogenic | 0.9483 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| V/Y | 0.7057 | likely_pathogenic | 0.7739 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.694 | prob.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.