Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19049 | 57370;57371;57372 | chr2:178598025;178598024;178598023 | chr2:179462752;179462751;179462750 |
| N2AB | 17408 | 52447;52448;52449 | chr2:178598025;178598024;178598023 | chr2:179462752;179462751;179462750 |
| N2A | 16481 | 49666;49667;49668 | chr2:178598025;178598024;178598023 | chr2:179462752;179462751;179462750 |
| N2B | 9984 | 30175;30176;30177 | chr2:178598025;178598024;178598023 | chr2:179462752;179462751;179462750 |
| Novex-1 | 10109 | 30550;30551;30552 | chr2:178598025;178598024;178598023 | chr2:179462752;179462751;179462750 |
| Novex-2 | 10176 | 30751;30752;30753 | chr2:178598025;178598024;178598023 | chr2:179462752;179462751;179462750 |
| 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/I | rs750251277  |
-0.098 | 0.997 | N | 0.478 | 0.256 | 0.608695890411 | gnomAD-2.1.1 | 8.04E-05 | None | None | None | None | N | None | 0 | 5.80114E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs750251277 |
-0.098 | 0.997 | N | 0.478 | 0.256 | 0.608695890411 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs750251277 |
-0.098 | 0.997 | N | 0.478 | 0.256 | 0.608695890411 | gnomAD-4.0.0 | 3.07683E-05 | None | None | None | None | N | None | 0 | 4.06987E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.2188 | likely_benign | 0.2196 | benign | -0.681 | Destabilizing | 0.999 | D | 0.561 | neutral | N | 0.502530701 | None | None | N |
| V/C | 0.8165 | likely_pathogenic | 0.8057 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| V/D | 0.7534 | likely_pathogenic | 0.7323 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.476217403 | None | None | N |
| V/E | 0.5175 | ambiguous | 0.5017 | ambiguous | -0.49 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| V/F | 0.4051 | ambiguous | 0.3523 | ambiguous | -0.778 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.515961359 | None | None | N |
| V/G | 0.4241 | ambiguous | 0.4095 | ambiguous | -0.845 | Destabilizing | 1.0 | D | 0.826 | deleterious | N | 0.47773834 | None | None | N |
| V/H | 0.7559 | likely_pathogenic | 0.734 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/I | 0.0928 | likely_benign | 0.0936 | benign | -0.393 | Destabilizing | 0.997 | D | 0.478 | neutral | N | 0.520769746 | None | None | N |
| V/K | 0.5445 | ambiguous | 0.5201 | ambiguous | -0.606 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/L | 0.3294 | likely_benign | 0.3099 | benign | -0.393 | Destabilizing | 0.997 | D | 0.508 | neutral | N | 0.494007219 | None | None | N |
| V/M | 0.2526 | likely_benign | 0.2295 | benign | -0.402 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| V/N | 0.4775 | ambiguous | 0.4577 | ambiguous | -0.369 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/P | 0.6601 | likely_pathogenic | 0.7023 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/Q | 0.4483 | ambiguous | 0.4336 | ambiguous | -0.614 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/R | 0.5087 | ambiguous | 0.491 | ambiguous | -0.049 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/S | 0.3446 | ambiguous | 0.3293 | benign | -0.771 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/T | 0.1578 | likely_benign | 0.1574 | benign | -0.767 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| V/W | 0.941 | likely_pathogenic | 0.9276 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/Y | 0.8283 | likely_pathogenic | 0.7895 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.823 | 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.