Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25266 | 76021;76022;76023 | chr2:178570336;178570335;178570334 | chr2:179435063;179435062;179435061 |
| N2AB | 23625 | 71098;71099;71100 | chr2:178570336;178570335;178570334 | chr2:179435063;179435062;179435061 |
| N2A | 22698 | 68317;68318;68319 | chr2:178570336;178570335;178570334 | chr2:179435063;179435062;179435061 |
| N2B | 16201 | 48826;48827;48828 | chr2:178570336;178570335;178570334 | chr2:179435063;179435062;179435061 |
| Novex-1 | 16326 | 49201;49202;49203 | chr2:178570336;178570335;178570334 | chr2:179435063;179435062;179435061 |
| Novex-2 | 16393 | 49402;49403;49404 | chr2:178570336;178570335;178570334 | chr2:179435063;179435062;179435061 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs1707719104  |
None | 0.949 | D | 0.849 | 0.62 | 0.906587316063 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs1707719104 |
None | 0.949 | D | 0.849 | 0.62 | 0.906587316063 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47102E-05 | 0 | 0 |
| V/I | rs1389153424 |
-0.556 | 0.014 | N | 0.197 | 0.06 | 0.277317399466 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| V/I | rs1389153424 |
-0.556 | 0.014 | N | 0.197 | 0.06 | 0.277317399466 | gnomAD-4.0.0 | 1.36884E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79918E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5535 | ambiguous | 0.673 | pathogenic | -1.905 | Destabilizing | 0.517 | D | 0.705 | prob.neutral | N | 0.479480449 | None | None | N |
| V/C | 0.8917 | likely_pathogenic | 0.9461 | pathogenic | -1.407 | Destabilizing | 0.996 | D | 0.815 | deleterious | None | None | None | None | N |
| V/D | 0.9864 | likely_pathogenic | 0.9931 | pathogenic | -1.99 | Destabilizing | 0.983 | D | 0.873 | deleterious | N | 0.504003486 | None | None | N |
| V/E | 0.9606 | likely_pathogenic | 0.9793 | pathogenic | -1.836 | Destabilizing | 0.961 | D | 0.839 | deleterious | None | None | None | None | N |
| V/F | 0.6511 | likely_pathogenic | 0.7693 | pathogenic | -1.192 | Destabilizing | 0.82 | D | 0.828 | deleterious | N | 0.514292926 | None | None | N |
| V/G | 0.8228 | likely_pathogenic | 0.8873 | pathogenic | -2.395 | Highly Destabilizing | 0.949 | D | 0.849 | deleterious | D | 0.55232877 | None | None | N |
| V/H | 0.9838 | likely_pathogenic | 0.9932 | pathogenic | -2.007 | Highly Destabilizing | 0.996 | D | 0.865 | deleterious | None | None | None | None | N |
| V/I | 0.0896 | likely_benign | 0.105 | benign | -0.581 | Destabilizing | 0.014 | N | 0.197 | neutral | N | 0.485486523 | None | None | N |
| V/K | 0.9794 | likely_pathogenic | 0.9908 | pathogenic | -1.632 | Destabilizing | 0.961 | D | 0.845 | deleterious | None | None | None | None | N |
| V/L | 0.4711 | ambiguous | 0.683 | pathogenic | -0.581 | Destabilizing | 0.003 | N | 0.327 | neutral | N | 0.475924234 | None | None | N |
| V/M | 0.486 | ambiguous | 0.6312 | pathogenic | -0.519 | Destabilizing | 0.923 | D | 0.725 | prob.delet. | None | None | None | None | N |
| V/N | 0.945 | likely_pathogenic | 0.9729 | pathogenic | -1.718 | Destabilizing | 0.987 | D | 0.869 | deleterious | None | None | None | None | N |
| V/P | 0.9669 | likely_pathogenic | 0.9844 | pathogenic | -0.991 | Destabilizing | 0.987 | D | 0.851 | deleterious | None | None | None | None | N |
| V/Q | 0.9585 | likely_pathogenic | 0.981 | pathogenic | -1.657 | Destabilizing | 0.987 | D | 0.856 | deleterious | None | None | None | None | N |
| V/R | 0.9707 | likely_pathogenic | 0.987 | pathogenic | -1.349 | Destabilizing | 0.961 | D | 0.867 | deleterious | None | None | None | None | N |
| V/S | 0.85 | likely_pathogenic | 0.9059 | pathogenic | -2.364 | Highly Destabilizing | 0.961 | D | 0.809 | deleterious | None | None | None | None | N |
| V/T | 0.7556 | likely_pathogenic | 0.8301 | pathogenic | -2.063 | Highly Destabilizing | 0.775 | D | 0.722 | prob.delet. | None | None | None | None | N |
| V/W | 0.9892 | likely_pathogenic | 0.9958 | pathogenic | -1.57 | Destabilizing | 0.996 | D | 0.838 | deleterious | None | None | None | None | N |
| V/Y | 0.9412 | likely_pathogenic | 0.9736 | pathogenic | -1.215 | Destabilizing | 0.961 | D | 0.823 | 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.