Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3041 | 9346;9347;9348 | chr2:178768715;178768714;178768713 | chr2:179633442;179633441;179633440 |
| N2AB | 3041 | 9346;9347;9348 | chr2:178768715;178768714;178768713 | chr2:179633442;179633441;179633440 |
| N2A | 3041 | 9346;9347;9348 | chr2:178768715;178768714;178768713 | chr2:179633442;179633441;179633440 |
| N2B | 2995 | 9208;9209;9210 | chr2:178768715;178768714;178768713 | chr2:179633442;179633441;179633440 |
| Novex-1 | 2995 | 9208;9209;9210 | chr2:178768715;178768714;178768713 | chr2:179633442;179633441;179633440 |
| Novex-2 | 2995 | 9208;9209;9210 | chr2:178768715;178768714;178768713 | chr2:179633442;179633441;179633440 |
| Novex-3 | 3041 | 9346;9347;9348 | chr2:178768715;178768714;178768713 | chr2:179633442;179633441;179633440 |
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 | -1.742 | 0.999 | D | 0.627 | 0.427 | 0.695208288813 | gnomAD-2.1.1 | 1.59E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 8.8E-06 | 0 |
| V/A | None | -1.742 | 0.999 | D | 0.627 | 0.427 | 0.695208288813 | gnomAD-4.0.0 | 1.27253E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.56952E-06 | 7.16373E-05 | 0 |
| V/L | None | None | 0.997 | N | 0.589 | 0.288 | 0.578230335649 | gnomAD-4.0.0 | 1.59064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85652E-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 | 0.3128 | likely_benign | 0.3185 | benign | -1.609 | Destabilizing | 0.999 | D | 0.627 | neutral | D | 0.544244332 | None | None | N |
| V/C | 0.8548 | likely_pathogenic | 0.884 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/D | 0.8069 | likely_pathogenic | 0.8246 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/E | 0.4549 | ambiguous | 0.4675 | ambiguous | -1.293 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.510323634 | None | None | N |
| V/F | 0.3633 | ambiguous | 0.4025 | ambiguous | -0.979 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/G | 0.6726 | likely_pathogenic | 0.7037 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.562986409 | None | None | N |
| V/H | 0.7764 | likely_pathogenic | 0.7973 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/I | 0.0824 | likely_benign | 0.0849 | benign | -0.408 | Destabilizing | 0.998 | D | 0.553 | neutral | None | None | None | None | N |
| V/K | 0.5546 | ambiguous | 0.5776 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| V/L | 0.3475 | ambiguous | 0.3721 | ambiguous | -0.408 | Destabilizing | 0.997 | D | 0.589 | neutral | N | 0.509853677 | None | None | N |
| V/M | 0.2015 | likely_benign | 0.214 | benign | -0.494 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.515342549 | None | None | N |
| V/N | 0.6557 | likely_pathogenic | 0.6733 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/P | 0.9946 | likely_pathogenic | 0.9937 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/Q | 0.4414 | ambiguous | 0.4586 | ambiguous | -1.204 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/R | 0.5154 | ambiguous | 0.5489 | ambiguous | -0.954 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| V/S | 0.4113 | ambiguous | 0.4186 | ambiguous | -1.921 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| V/T | 0.2272 | likely_benign | 0.2165 | benign | -1.656 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| V/W | 0.9457 | likely_pathogenic | 0.9566 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/Y | 0.8044 | likely_pathogenic | 0.83 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.852 | deleterious | 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.