Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1492 | 4699;4700;4701 | chr2:178777710;178777709;178777708 | chr2:179642437;179642436;179642435 |
| N2AB | 1492 | 4699;4700;4701 | chr2:178777710;178777709;178777708 | chr2:179642437;179642436;179642435 |
| N2A | 1492 | 4699;4700;4701 | chr2:178777710;178777709;178777708 | chr2:179642437;179642436;179642435 |
| N2B | 1446 | 4561;4562;4563 | chr2:178777710;178777709;178777708 | chr2:179642437;179642436;179642435 |
| Novex-1 | 1446 | 4561;4562;4563 | chr2:178777710;178777709;178777708 | chr2:179642437;179642436;179642435 |
| Novex-2 | 1446 | 4561;4562;4563 | chr2:178777710;178777709;178777708 | chr2:179642437;179642436;179642435 |
| Novex-3 | 1492 | 4699;4700;4701 | chr2:178777710;178777709;178777708 | chr2:179642437;179642436;179642435 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/L | rs370564790  |
-0.416 | 1.0 | N | 0.806 | 0.774 | None | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/L | rs370564790 |
-0.416 | 1.0 | N | 0.806 | 0.774 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs370564790 |
None | 1.0 | N | 0.685 | 0.677 | 0.41958645093 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs370564790 |
None | 1.0 | N | 0.685 | 0.677 | 0.41958645093 | gnomAD-4.0.0 | 6.56789E-06 | None | None | None | None | N | None | 2.41115E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9143 | likely_pathogenic | 0.9269 | pathogenic | -1.334 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| H/C | 0.3834 | ambiguous | 0.3968 | ambiguous | -0.674 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| H/D | 0.95 | likely_pathogenic | 0.9615 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.656636631 | None | None | N |
| H/E | 0.9142 | likely_pathogenic | 0.9286 | pathogenic | -0.936 | Destabilizing | 0.999 | D | 0.517 | neutral | None | None | None | None | N |
| H/F | 0.7918 | likely_pathogenic | 0.805 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| H/G | 0.9461 | likely_pathogenic | 0.9546 | pathogenic | -1.732 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| H/I | 0.8507 | likely_pathogenic | 0.8717 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| H/K | 0.3647 | ambiguous | 0.3812 | ambiguous | -0.817 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| H/L | 0.4726 | ambiguous | 0.4957 | ambiguous | -0.19 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.498530418 | None | None | N |
| H/M | 0.9044 | likely_pathogenic | 0.9113 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| H/N | 0.6965 | likely_pathogenic | 0.7371 | pathogenic | -1.176 | Destabilizing | 0.999 | D | 0.534 | neutral | D | 0.568710923 | None | None | N |
| H/P | 0.9742 | likely_pathogenic | 0.9779 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.533259202 | None | None | N |
| H/Q | 0.5404 | ambiguous | 0.5682 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.574615013 | None | None | N |
| H/R | 0.132 | likely_benign | 0.138 | benign | -1.034 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.507383776 | None | None | N |
| H/S | 0.8947 | likely_pathogenic | 0.913 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| H/T | 0.934 | likely_pathogenic | 0.9473 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| H/V | 0.8337 | likely_pathogenic | 0.855 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| H/W | 0.743 | likely_pathogenic | 0.7451 | pathogenic | 0.468 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| H/Y | 0.3489 | ambiguous | 0.3562 | ambiguous | 0.496 | Stabilizing | 0.999 | D | 0.59 | neutral | D | 0.567157648 | 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.