Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20530 | 61813;61814;61815 | chr2:178590137;178590136;178590135 | chr2:179454864;179454863;179454862 |
| N2AB | 18889 | 56890;56891;56892 | chr2:178590137;178590136;178590135 | chr2:179454864;179454863;179454862 |
| N2A | 17962 | 54109;54110;54111 | chr2:178590137;178590136;178590135 | chr2:179454864;179454863;179454862 |
| N2B | 11465 | 34618;34619;34620 | chr2:178590137;178590136;178590135 | chr2:179454864;179454863;179454862 |
| Novex-1 | 11590 | 34993;34994;34995 | chr2:178590137;178590136;178590135 | chr2:179454864;179454863;179454862 |
| Novex-2 | 11657 | 35194;35195;35196 | chr2:178590137;178590136;178590135 | chr2:179454864;179454863;179454862 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs755700079  |
-1.0 | 1.0 | N | 0.737 | 0.411 | 0.406394481233 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs755700079 |
-1.0 | 1.0 | N | 0.737 | 0.411 | 0.406394481233 | gnomAD-4.0.0 | 4.791E-06 | None | None | None | None | N | None | 2.99061E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39801E-06 | 0 | 0 |
| P/T | rs755700079 |
-0.911 | 1.0 | N | 0.723 | 0.411 | 0.43923137753 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 0 |
| P/T | rs755700079 |
-0.911 | 1.0 | N | 0.723 | 0.411 | 0.43923137753 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs755700079 |
-0.911 | 1.0 | N | 0.723 | 0.411 | 0.43923137753 | gnomAD-4.0.0 | 7.0671E-05 | None | None | None | None | N | None | 6.67967E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.07172E-05 | 0 | 3.20328E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.3461 | ambiguous | 0.4013 | ambiguous | -0.899 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.465503614 | None | None | N |
| P/C | 0.8361 | likely_pathogenic | 0.8639 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| P/D | 0.7731 | likely_pathogenic | 0.8124 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| P/E | 0.6422 | likely_pathogenic | 0.7154 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| P/F | 0.8643 | likely_pathogenic | 0.898 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| P/G | 0.5585 | ambiguous | 0.5895 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| P/H | 0.5981 | likely_pathogenic | 0.6577 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.497386746 | None | None | N |
| P/I | 0.727 | likely_pathogenic | 0.8041 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| P/K | 0.7718 | likely_pathogenic | 0.8273 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| P/L | 0.4327 | ambiguous | 0.5221 | ambiguous | -0.389 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.505024794 | None | None | N |
| P/M | 0.7404 | likely_pathogenic | 0.7897 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| P/N | 0.6691 | likely_pathogenic | 0.7021 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| P/Q | 0.4967 | ambiguous | 0.5839 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| P/R | 0.6436 | likely_pathogenic | 0.7271 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.456020126 | None | None | N |
| P/S | 0.4136 | ambiguous | 0.4831 | ambiguous | -1.071 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.436567573 | None | None | N |
| P/T | 0.3741 | ambiguous | 0.3646 | ambiguous | -1.018 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.420195398 | None | None | N |
| P/V | 0.5882 | likely_pathogenic | 0.6738 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| P/W | 0.9133 | likely_pathogenic | 0.9395 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| P/Y | 0.8 | likely_pathogenic | 0.846 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.638 | 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.