Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19886 | 59881;59882;59883 | chr2:178592248;178592247;178592246 | chr2:179456975;179456974;179456973 |
| N2AB | 18245 | 54958;54959;54960 | chr2:178592248;178592247;178592246 | chr2:179456975;179456974;179456973 |
| N2A | 17318 | 52177;52178;52179 | chr2:178592248;178592247;178592246 | chr2:179456975;179456974;179456973 |
| N2B | 10821 | 32686;32687;32688 | chr2:178592248;178592247;178592246 | chr2:179456975;179456974;179456973 |
| Novex-1 | 10946 | 33061;33062;33063 | chr2:178592248;178592247;178592246 | chr2:179456975;179456974;179456973 |
| Novex-2 | 11013 | 33262;33263;33264 | chr2:178592248;178592247;178592246 | chr2:179456975;179456974;179456973 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | rs755949982  |
-1.661 | 0.999 | D | 0.882 | 0.557 | 0.806559599631 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.11E-06 | 0 |
| V/D | rs755949982 |
-1.661 | 0.999 | D | 0.882 | 0.557 | 0.806559599631 | gnomAD-4.0.0 | 6.85091E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00077E-07 | 0 | 0 |
| V/G | rs755949982 |
-2.358 | 0.999 | N | 0.879 | 0.497 | None | gnomAD-2.1.1 | 5.33E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.18447E-04 | 0 |
| V/G | rs755949982 |
-2.358 | 0.999 | N | 0.879 | 0.497 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| V/G | rs755949982 |
-2.358 | 0.999 | N | 0.879 | 0.497 | None | gnomAD-4.0.0 | 8.25193E-05 | None | None | None | None | N | None | 1.33572E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.0687E-04 | 0 | 9.62371E-05 |
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 | 0.3878 | ambiguous | 0.365 | ambiguous | -1.573 | Destabilizing | 0.977 | D | 0.543 | neutral | N | 0.519385666 | None | None | N |
| V/C | 0.814 | likely_pathogenic | 0.7967 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/D | 0.9583 | likely_pathogenic | 0.9448 | pathogenic | -1.187 | Destabilizing | 0.999 | D | 0.882 | deleterious | D | 0.531400131 | None | None | N |
| V/E | 0.9332 | likely_pathogenic | 0.9189 | pathogenic | -1.09 | Destabilizing | 0.999 | D | 0.885 | deleterious | None | None | None | None | N |
| V/F | 0.3695 | ambiguous | 0.3266 | benign | -0.987 | Destabilizing | 0.993 | D | 0.871 | deleterious | N | 0.474246075 | None | None | N |
| V/G | 0.6774 | likely_pathogenic | 0.6356 | pathogenic | -1.993 | Destabilizing | 0.999 | D | 0.879 | deleterious | N | 0.500761028 | None | None | N |
| V/H | 0.9642 | likely_pathogenic | 0.9564 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| V/I | 0.071 | likely_benign | 0.0695 | benign | -0.48 | Destabilizing | 0.117 | N | 0.309 | neutral | N | 0.464284531 | None | None | N |
| V/K | 0.9487 | likely_pathogenic | 0.9382 | pathogenic | -1.278 | Destabilizing | 0.998 | D | 0.889 | deleterious | None | None | None | None | N |
| V/L | 0.3514 | ambiguous | 0.2939 | benign | -0.48 | Destabilizing | 0.898 | D | 0.499 | neutral | N | 0.517252225 | None | None | N |
| V/M | 0.3275 | likely_benign | 0.2854 | benign | -0.502 | Destabilizing | 0.995 | D | 0.809 | deleterious | None | None | None | None | N |
| V/N | 0.8848 | likely_pathogenic | 0.8562 | pathogenic | -1.267 | Destabilizing | 0.999 | D | 0.894 | deleterious | None | None | None | None | N |
| V/P | 0.6444 | likely_pathogenic | 0.6145 | pathogenic | -0.81 | Destabilizing | 0.999 | D | 0.895 | deleterious | None | None | None | None | N |
| V/Q | 0.9335 | likely_pathogenic | 0.9207 | pathogenic | -1.261 | Destabilizing | 0.999 | D | 0.897 | deleterious | None | None | None | None | N |
| V/R | 0.9373 | likely_pathogenic | 0.9249 | pathogenic | -0.94 | Destabilizing | 0.999 | D | 0.892 | deleterious | None | None | None | None | N |
| V/S | 0.7422 | likely_pathogenic | 0.7104 | pathogenic | -1.923 | Destabilizing | 0.998 | D | 0.883 | deleterious | None | None | None | None | N |
| V/T | 0.5687 | likely_pathogenic | 0.5507 | ambiguous | -1.68 | Destabilizing | 0.983 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/W | 0.9584 | likely_pathogenic | 0.9481 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/Y | 0.8433 | likely_pathogenic | 0.8209 | pathogenic | -0.904 | Destabilizing | 0.999 | D | 0.873 | 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.