Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32336 | 97231;97232;97233 | chr2:178542848;178542847;178542846 | chr2:179407575;179407574;179407573 |
| N2AB | 30695 | 92308;92309;92310 | chr2:178542848;178542847;178542846 | chr2:179407575;179407574;179407573 |
| N2A | 29768 | 89527;89528;89529 | chr2:178542848;178542847;178542846 | chr2:179407575;179407574;179407573 |
| N2B | 23271 | 70036;70037;70038 | chr2:178542848;178542847;178542846 | chr2:179407575;179407574;179407573 |
| Novex-1 | 23396 | 70411;70412;70413 | chr2:178542848;178542847;178542846 | chr2:179407575;179407574;179407573 |
| Novex-2 | 23463 | 70612;70613;70614 | chr2:178542848;178542847;178542846 | chr2:179407575;179407574;179407573 |
| 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/L | rs745496890  |
-0.603 | 1.0 | D | 0.866 | 0.618 | 0.769516625955 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22767E-04 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs745496890 |
-0.603 | 1.0 | D | 0.866 | 0.618 | 0.769516625955 | gnomAD-4.0.0 | 3.42096E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.00766E-04 | None | 0 | 0 | 0 | 0 | 1.65651E-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 | 0.3518 | ambiguous | 0.321 | benign | -1.463 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.496049855 | None | None | N |
| P/C | 0.9106 | likely_pathogenic | 0.8928 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/D | 0.9958 | likely_pathogenic | 0.9958 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/E | 0.9863 | likely_pathogenic | 0.9853 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/F | 0.9896 | likely_pathogenic | 0.9844 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/G | 0.9335 | likely_pathogenic | 0.9286 | pathogenic | -1.739 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/H | 0.9815 | likely_pathogenic | 0.9772 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.541021004 | None | None | N |
| P/I | 0.8765 | likely_pathogenic | 0.8341 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/K | 0.9901 | likely_pathogenic | 0.9891 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/L | 0.7443 | likely_pathogenic | 0.658 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.524430324 | None | None | N |
| P/M | 0.939 | likely_pathogenic | 0.9197 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/N | 0.9926 | likely_pathogenic | 0.9924 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/Q | 0.9647 | likely_pathogenic | 0.9635 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/R | 0.97 | likely_pathogenic | 0.9699 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.540514025 | None | None | N |
| P/S | 0.8805 | likely_pathogenic | 0.8613 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.517129851 | None | None | N |
| P/T | 0.8189 | likely_pathogenic | 0.7855 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.540007046 | None | None | N |
| P/V | 0.6965 | likely_pathogenic | 0.6479 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/W | 0.9974 | likely_pathogenic | 0.9961 | pathogenic | -1.471 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/Y | 0.9929 | likely_pathogenic | 0.9898 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.846 | deleterious | 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.