Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23732 | 71419;71420;71421 | chr2:178574938;178574937;178574936 | chr2:179439665;179439664;179439663 |
| N2AB | 22091 | 66496;66497;66498 | chr2:178574938;178574937;178574936 | chr2:179439665;179439664;179439663 |
| N2A | 21164 | 63715;63716;63717 | chr2:178574938;178574937;178574936 | chr2:179439665;179439664;179439663 |
| N2B | 14667 | 44224;44225;44226 | chr2:178574938;178574937;178574936 | chr2:179439665;179439664;179439663 |
| Novex-1 | 14792 | 44599;44600;44601 | chr2:178574938;178574937;178574936 | chr2:179439665;179439664;179439663 |
| Novex-2 | 14859 | 44800;44801;44802 | chr2:178574938;178574937;178574936 | chr2:179439665;179439664;179439663 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs747116393  |
-0.275 | 1.0 | N | 0.771 | 0.552 | 0.434272847907 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| G/R | rs747116393 |
-0.275 | 1.0 | N | 0.771 | 0.552 | 0.434272847907 | gnomAD-4.0.0 | 1.36907E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9968E-07 | 1.15988E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3785 | ambiguous | 0.4091 | ambiguous | -0.315 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.51539285 | None | None | N |
| G/C | 0.7243 | likely_pathogenic | 0.7168 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/D | 0.9013 | likely_pathogenic | 0.8747 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/E | 0.8752 | likely_pathogenic | 0.853 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.472595055 | None | None | N |
| G/F | 0.9335 | likely_pathogenic | 0.9251 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/H | 0.9511 | likely_pathogenic | 0.9416 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/I | 0.8761 | likely_pathogenic | 0.8514 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/K | 0.9295 | likely_pathogenic | 0.9179 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/L | 0.8701 | likely_pathogenic | 0.8708 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| G/M | 0.9254 | likely_pathogenic | 0.9262 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/N | 0.8918 | likely_pathogenic | 0.866 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/P | 0.8459 | likely_pathogenic | 0.8633 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/Q | 0.9137 | likely_pathogenic | 0.8976 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/R | 0.8924 | likely_pathogenic | 0.8681 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.468836073 | None | None | N |
| G/S | 0.4162 | ambiguous | 0.4006 | ambiguous | -0.674 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/T | 0.7516 | likely_pathogenic | 0.7332 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/V | 0.8066 | likely_pathogenic | 0.7757 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.481966805 | None | None | N |
| G/W | 0.9223 | likely_pathogenic | 0.8933 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9081 | likely_pathogenic | 0.8954 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | 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.