Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24955 | 75088;75089;75090 | chr2:178571269;178571268;178571267 | chr2:179435996;179435995;179435994 |
| N2AB | 23314 | 70165;70166;70167 | chr2:178571269;178571268;178571267 | chr2:179435996;179435995;179435994 |
| N2A | 22387 | 67384;67385;67386 | chr2:178571269;178571268;178571267 | chr2:179435996;179435995;179435994 |
| N2B | 15890 | 47893;47894;47895 | chr2:178571269;178571268;178571267 | chr2:179435996;179435995;179435994 |
| Novex-1 | 16015 | 48268;48269;48270 | chr2:178571269;178571268;178571267 | chr2:179435996;179435995;179435994 |
| Novex-2 | 16082 | 48469;48470;48471 | chr2:178571269;178571268;178571267 | chr2:179435996;179435995;179435994 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/L | None | None | 1.0 | D | 0.649 | 0.574 | 0.790474174173 | 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 |
| W/R | rs1484464559  |
-0.932 | 1.0 | D | 0.733 | 0.664 | 0.760409523172 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/R | rs1484464559 |
-0.932 | 1.0 | D | 0.733 | 0.664 | 0.760409523172 | gnomAD-4.0.0 | 1.59184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9927 | likely_pathogenic | 0.9929 | pathogenic | -2.868 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/C | 0.9967 | likely_pathogenic | 0.9969 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.531415541 | None | None | N |
| W/D | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/E | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| W/F | 0.7417 | likely_pathogenic | 0.7294 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| W/G | 0.9776 | likely_pathogenic | 0.978 | pathogenic | -3.061 | Highly Destabilizing | 1.0 | D | 0.649 | neutral | D | 0.548759327 | None | None | N |
| W/H | 0.9901 | likely_pathogenic | 0.9898 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| W/I | 0.994 | likely_pathogenic | 0.9936 | pathogenic | -2.172 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| W/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/L | 0.9682 | likely_pathogenic | 0.9666 | pathogenic | -2.172 | Highly Destabilizing | 1.0 | D | 0.649 | neutral | D | 0.528627156 | None | None | N |
| W/M | 0.9932 | likely_pathogenic | 0.9925 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| W/N | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| W/P | 0.9954 | likely_pathogenic | 0.9955 | pathogenic | -2.42 | Highly Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.769 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/R | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.530401583 | None | None | N |
| W/S | 0.9868 | likely_pathogenic | 0.9869 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.525121664 | None | None | N |
| W/T | 0.994 | likely_pathogenic | 0.9938 | pathogenic | -2.089 | Highly Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| W/V | 0.993 | likely_pathogenic | 0.9923 | pathogenic | -2.42 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9082 | likely_pathogenic | 0.9023 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.569 | 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.