Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3122 | 9589;9590;9591 | chr2:178767866;178767865;178767864 | chr2:179632593;179632592;179632591 |
| N2AB | 3122 | 9589;9590;9591 | chr2:178767866;178767865;178767864 | chr2:179632593;179632592;179632591 |
| N2A | 3122 | 9589;9590;9591 | chr2:178767866;178767865;178767864 | chr2:179632593;179632592;179632591 |
| N2B | 3076 | 9451;9452;9453 | chr2:178767866;178767865;178767864 | chr2:179632593;179632592;179632591 |
| Novex-1 | 3076 | 9451;9452;9453 | chr2:178767866;178767865;178767864 | chr2:179632593;179632592;179632591 |
| Novex-2 | 3076 | 9451;9452;9453 | chr2:178767866;178767865;178767864 | chr2:179632593;179632592;179632591 |
| Novex-3 | 3122 | 9589;9590;9591 | chr2:178767866;178767865;178767864 | chr2:179632593;179632592;179632591 |
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/C | None | None | 1.0 | N | 0.671 | 0.437 | 0.273503213844 | 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 |
| S/T | None | None | 0.999 | N | 0.46 | 0.239 | 0.124217242631 | 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 |
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 | 0.0838 | likely_benign | 0.0844 | benign | -0.265 | Destabilizing | 0.997 | D | 0.42 | neutral | N | 0.319987779 | None | None | N |
| S/C | 0.3565 | ambiguous | 0.3515 | ambiguous | -0.239 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.501604659 | None | None | N |
| S/D | 0.6351 | likely_pathogenic | 0.6278 | pathogenic | 0.008 | Stabilizing | 0.999 | D | 0.567 | neutral | None | None | None | None | N |
| S/E | 0.6713 | likely_pathogenic | 0.7003 | pathogenic | -0.1 | Destabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | N |
| S/F | 0.3439 | ambiguous | 0.4512 | ambiguous | -0.931 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.443203803 | None | None | N |
| S/G | 0.1766 | likely_benign | 0.1495 | benign | -0.344 | Destabilizing | 0.999 | D | 0.477 | neutral | None | None | None | None | N |
| S/H | 0.6264 | likely_pathogenic | 0.6537 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| S/I | 0.3347 | likely_benign | 0.3991 | ambiguous | -0.19 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| S/K | 0.8721 | likely_pathogenic | 0.8927 | pathogenic | -0.443 | Destabilizing | 0.999 | D | 0.558 | neutral | None | None | None | None | N |
| S/L | 0.1574 | likely_benign | 0.1859 | benign | -0.19 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| S/M | 0.281 | likely_benign | 0.3268 | benign | 0.013 | Stabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| S/N | 0.2726 | likely_benign | 0.2538 | benign | -0.131 | Destabilizing | 0.999 | D | 0.535 | neutral | None | None | None | None | N |
| S/P | 0.5261 | ambiguous | 0.4592 | ambiguous | -0.188 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.416209413 | None | None | N |
| S/Q | 0.6634 | likely_pathogenic | 0.691 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| S/R | 0.8398 | likely_pathogenic | 0.8536 | pathogenic | -0.167 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| S/T | 0.1203 | likely_benign | 0.1268 | benign | -0.249 | Destabilizing | 0.999 | D | 0.46 | neutral | N | 0.319652087 | None | None | N |
| S/V | 0.3048 | likely_benign | 0.3576 | ambiguous | -0.188 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/W | 0.5234 | ambiguous | 0.6002 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| S/Y | 0.3676 | ambiguous | 0.4331 | ambiguous | -0.678 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | N | 0.428185036 | 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.