Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19990 | 60193;60194;60195 | chr2:178591851;178591850;178591849 | chr2:179456578;179456577;179456576 |
| N2AB | 18349 | 55270;55271;55272 | chr2:178591851;178591850;178591849 | chr2:179456578;179456577;179456576 |
| N2A | 17422 | 52489;52490;52491 | chr2:178591851;178591850;178591849 | chr2:179456578;179456577;179456576 |
| N2B | 10925 | 32998;32999;33000 | chr2:178591851;178591850;178591849 | chr2:179456578;179456577;179456576 |
| Novex-1 | 11050 | 33373;33374;33375 | chr2:178591851;178591850;178591849 | chr2:179456578;179456577;179456576 |
| Novex-2 | 11117 | 33574;33575;33576 | chr2:178591851;178591850;178591849 | chr2:179456578;179456577;179456576 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs757340381  |
-0.77 | 1.0 | N | 0.457 | 0.235 | 0.300784259202 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs757340381 |
-0.77 | 1.0 | N | 0.457 | 0.235 | 0.300784259202 | gnomAD-4.0.0 | 3.18482E-06 | None | None | None | None | N | None | 0 | 4.57792E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | None | None | 1.0 | N | 0.766 | 0.427 | 0.398283496042 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5922 | likely_pathogenic | 0.4536 | ambiguous | -0.021 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.492852425 | None | None | N |
| D/C | 0.9077 | likely_pathogenic | 0.8761 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| D/E | 0.5561 | ambiguous | 0.4049 | ambiguous | -0.749 | Destabilizing | 1.0 | D | 0.457 | neutral | N | 0.495834016 | None | None | N |
| D/F | 0.9132 | likely_pathogenic | 0.8646 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/G | 0.3701 | ambiguous | 0.3031 | benign | -0.308 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.471474289 | None | None | N |
| D/H | 0.73 | likely_pathogenic | 0.629 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.521020462 | None | None | N |
| D/I | 0.9204 | likely_pathogenic | 0.8622 | pathogenic | 0.699 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/K | 0.8729 | likely_pathogenic | 0.806 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| D/L | 0.8057 | likely_pathogenic | 0.7255 | pathogenic | 0.699 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| D/M | 0.9309 | likely_pathogenic | 0.885 | pathogenic | 1.012 | Stabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| D/N | 0.2526 | likely_benign | 0.1872 | benign | -0.485 | Destabilizing | 1.0 | D | 0.63 | neutral | N | 0.480440489 | None | None | N |
| D/P | 0.9837 | likely_pathogenic | 0.9795 | pathogenic | 0.485 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/Q | 0.8053 | likely_pathogenic | 0.7036 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| D/R | 0.8627 | likely_pathogenic | 0.7986 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/S | 0.3024 | likely_benign | 0.231 | benign | -0.677 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/T | 0.5459 | ambiguous | 0.4349 | ambiguous | -0.465 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| D/V | 0.794 | likely_pathogenic | 0.6887 | pathogenic | 0.485 | Stabilizing | 1.0 | D | 0.821 | deleterious | N | 0.470305601 | None | None | N |
| D/W | 0.9814 | likely_pathogenic | 0.9713 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/Y | 0.6956 | likely_pathogenic | 0.6039 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.472507647 | 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.