Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23422 | 70489;70490;70491 | chr2:178575868;178575867;178575866 | chr2:179440595;179440594;179440593 |
| N2AB | 21781 | 65566;65567;65568 | chr2:178575868;178575867;178575866 | chr2:179440595;179440594;179440593 |
| N2A | 20854 | 62785;62786;62787 | chr2:178575868;178575867;178575866 | chr2:179440595;179440594;179440593 |
| N2B | 14357 | 43294;43295;43296 | chr2:178575868;178575867;178575866 | chr2:179440595;179440594;179440593 |
| Novex-1 | 14482 | 43669;43670;43671 | chr2:178575868;178575867;178575866 | chr2:179440595;179440594;179440593 |
| Novex-2 | 14549 | 43870;43871;43872 | chr2:178575868;178575867;178575866 | chr2:179440595;179440594;179440593 |
| 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 | rs780170483  |
-0.465 | 1.0 | D | 0.901 | 0.793 | 0.842722146577 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs780170483 |
-0.465 | 1.0 | D | 0.901 | 0.793 | 0.842722146577 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs780170483 |
-0.465 | 1.0 | D | 0.901 | 0.793 | 0.842722146577 | gnomAD-4.0.0 | 6.57609E-06 | None | None | None | None | I | None | 0 | 6.55566E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6187 | likely_pathogenic | 0.6616 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.585513465 | None | None | I |
| G/C | 0.8338 | likely_pathogenic | 0.8693 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/D | 0.9086 | likely_pathogenic | 0.9339 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/E | 0.8977 | likely_pathogenic | 0.9205 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.540576477 | None | None | I |
| G/F | 0.9776 | likely_pathogenic | 0.9829 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/H | 0.9574 | likely_pathogenic | 0.9696 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/I | 0.9719 | likely_pathogenic | 0.9754 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/K | 0.9437 | likely_pathogenic | 0.954 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/L | 0.9488 | likely_pathogenic | 0.96 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/M | 0.961 | likely_pathogenic | 0.968 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/N | 0.8963 | likely_pathogenic | 0.9243 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/Q | 0.8858 | likely_pathogenic | 0.9036 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/R | 0.8825 | likely_pathogenic | 0.903 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.611253381 | None | None | I |
| G/S | 0.5057 | ambiguous | 0.5649 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/T | 0.8689 | likely_pathogenic | 0.8859 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/V | 0.9334 | likely_pathogenic | 0.9401 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.611858794 | None | None | I |
| G/W | 0.9625 | likely_pathogenic | 0.9756 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.612262403 | None | None | I |
| G/Y | 0.9613 | likely_pathogenic | 0.9719 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
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.