Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25210 | 75853;75854;75855 | chr2:178570504;178570503;178570502 | chr2:179435231;179435230;179435229 |
| N2AB | 23569 | 70930;70931;70932 | chr2:178570504;178570503;178570502 | chr2:179435231;179435230;179435229 |
| N2A | 22642 | 68149;68150;68151 | chr2:178570504;178570503;178570502 | chr2:179435231;179435230;179435229 |
| N2B | 16145 | 48658;48659;48660 | chr2:178570504;178570503;178570502 | chr2:179435231;179435230;179435229 |
| Novex-1 | 16270 | 49033;49034;49035 | chr2:178570504;178570503;178570502 | chr2:179435231;179435230;179435229 |
| Novex-2 | 16337 | 49234;49235;49236 | chr2:178570504;178570503;178570502 | chr2:179435231;179435230;179435229 |
| 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/A | None | None | 1.0 | N | 0.613 | 0.389 | 0.227260227426 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4626 | ambiguous | 0.4263 | ambiguous | -0.402 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.504079779 | None | None | N |
| G/C | 0.7085 | likely_pathogenic | 0.7025 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/D | 0.759 | likely_pathogenic | 0.785 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/E | 0.7453 | likely_pathogenic | 0.7697 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.472265886 | None | None | N |
| G/F | 0.9043 | likely_pathogenic | 0.8987 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/H | 0.9363 | likely_pathogenic | 0.9391 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/I | 0.8067 | likely_pathogenic | 0.804 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/K | 0.9099 | likely_pathogenic | 0.9175 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/L | 0.8647 | likely_pathogenic | 0.8577 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| G/M | 0.8932 | likely_pathogenic | 0.8937 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/N | 0.8079 | likely_pathogenic | 0.8273 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| G/P | 0.9055 | likely_pathogenic | 0.918 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| G/Q | 0.895 | likely_pathogenic | 0.8967 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/R | 0.9119 | likely_pathogenic | 0.9127 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | N | 0.46554439 | None | None | N |
| G/S | 0.4523 | ambiguous | 0.4365 | ambiguous | -0.835 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| G/T | 0.716 | likely_pathogenic | 0.7156 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/V | 0.7478 | likely_pathogenic | 0.7374 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.483448062 | None | None | N |
| G/W | 0.875 | likely_pathogenic | 0.8753 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/Y | 0.8355 | likely_pathogenic | 0.8343 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | 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.