Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16195 | 48808;48809;48810 | chr2:178615362;178615361;178615360 | chr2:179480089;179480088;179480087 |
| N2AB | 14554 | 43885;43886;43887 | chr2:178615362;178615361;178615360 | chr2:179480089;179480088;179480087 |
| N2A | 13627 | 41104;41105;41106 | chr2:178615362;178615361;178615360 | chr2:179480089;179480088;179480087 |
| N2B | 7130 | 21613;21614;21615 | chr2:178615362;178615361;178615360 | chr2:179480089;179480088;179480087 |
| Novex-1 | 7255 | 21988;21989;21990 | chr2:178615362;178615361;178615360 | chr2:179480089;179480088;179480087 |
| Novex-2 | 7322 | 22189;22190;22191 | chr2:178615362;178615361;178615360 | chr2:179480089;179480088;179480087 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 0.968 | N | 0.791 | 0.478 | 0.726404257552 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-06 | 0 | 0 |
| C/Y | None | None | 0.995 | D | 0.732 | 0.277 | 0.679388506755 | gnomAD-4.0.0 | 1.36944E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79998E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5828 | likely_pathogenic | 0.5849 | pathogenic | -1.445 | Destabilizing | 0.702 | D | 0.499 | neutral | None | None | None | None | N |
| C/D | 0.9741 | likely_pathogenic | 0.9663 | pathogenic | -1.145 | Destabilizing | 0.976 | D | 0.758 | deleterious | None | None | None | None | N |
| C/E | 0.928 | likely_pathogenic | 0.9179 | pathogenic | -0.909 | Destabilizing | 0.976 | D | 0.78 | deleterious | None | None | None | None | N |
| C/F | 0.4349 | ambiguous | 0.4046 | ambiguous | -0.904 | Destabilizing | 0.995 | D | 0.729 | prob.delet. | N | 0.514484 | None | None | N |
| C/G | 0.4893 | ambiguous | 0.4765 | ambiguous | -1.797 | Destabilizing | 0.811 | D | 0.718 | prob.delet. | D | 0.565134826 | None | None | N |
| C/H | 0.7225 | likely_pathogenic | 0.6866 | pathogenic | -2.074 | Highly Destabilizing | 0.999 | D | 0.774 | deleterious | None | None | None | None | N |
| C/I | 0.6845 | likely_pathogenic | 0.6647 | pathogenic | -0.495 | Destabilizing | 0.988 | D | 0.672 | neutral | None | None | None | None | N |
| C/K | 0.808 | likely_pathogenic | 0.7842 | pathogenic | -0.67 | Destabilizing | 0.976 | D | 0.752 | deleterious | None | None | None | None | N |
| C/L | 0.5106 | ambiguous | 0.4717 | ambiguous | -0.495 | Destabilizing | 0.919 | D | 0.587 | neutral | None | None | None | None | N |
| C/M | 0.6111 | likely_pathogenic | 0.606 | pathogenic | 0.118 | Stabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | N |
| C/N | 0.7724 | likely_pathogenic | 0.7576 | pathogenic | -1.235 | Destabilizing | 0.976 | D | 0.782 | deleterious | None | None | None | None | N |
| C/P | 0.9977 | likely_pathogenic | 0.9967 | pathogenic | -0.789 | Destabilizing | 0.988 | D | 0.795 | deleterious | None | None | None | None | N |
| C/Q | 0.5642 | likely_pathogenic | 0.5351 | ambiguous | -0.753 | Destabilizing | 0.988 | D | 0.799 | deleterious | None | None | None | None | N |
| C/R | 0.5639 | ambiguous | 0.5149 | ambiguous | -1.215 | Destabilizing | 0.968 | D | 0.791 | deleterious | N | 0.447305409 | None | None | N |
| C/S | 0.5291 | ambiguous | 0.5245 | ambiguous | -1.524 | Destabilizing | 0.103 | N | 0.437 | neutral | N | 0.472853499 | None | None | N |
| C/T | 0.7793 | likely_pathogenic | 0.7729 | pathogenic | -1.102 | Destabilizing | 0.851 | D | 0.623 | neutral | None | None | None | None | N |
| C/V | 0.6366 | likely_pathogenic | 0.622 | pathogenic | -0.789 | Destabilizing | 0.919 | D | 0.649 | neutral | None | None | None | None | N |
| C/W | 0.8505 | likely_pathogenic | 0.8021 | pathogenic | -1.307 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | D | 0.5256639 | None | None | N |
| C/Y | 0.5358 | ambiguous | 0.5039 | ambiguous | -1.06 | Destabilizing | 0.995 | D | 0.732 | prob.delet. | D | 0.53327546 | 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.