Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22468 | 67627;67628;67629 | chr2:178579795;178579794;178579793 | chr2:179444522;179444521;179444520 |
| N2AB | 20827 | 62704;62705;62706 | chr2:178579795;178579794;178579793 | chr2:179444522;179444521;179444520 |
| N2A | 19900 | 59923;59924;59925 | chr2:178579795;178579794;178579793 | chr2:179444522;179444521;179444520 |
| N2B | 13403 | 40432;40433;40434 | chr2:178579795;178579794;178579793 | chr2:179444522;179444521;179444520 |
| Novex-1 | 13528 | 40807;40808;40809 | chr2:178579795;178579794;178579793 | chr2:179444522;179444521;179444520 |
| Novex-2 | 13595 | 41008;41009;41010 | chr2:178579795;178579794;178579793 | chr2:179444522;179444521;179444520 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs776356515  |
-2.311 | 0.002 | N | 0.59 | 0.262 | 0.556105722742 | 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 |
| C/G | rs776356515 |
-2.311 | 0.002 | N | 0.59 | 0.262 | 0.556105722742 | 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 |
| C/Y | rs767981131 |
-1.661 | 0.975 | N | 0.787 | 0.304 | 0.673390244647 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/Y | rs767981131 |
-1.661 | 0.975 | N | 0.787 | 0.304 | 0.673390244647 | gnomAD-4.0.0 | 1.59228E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5261 | ambiguous | 0.4606 | ambiguous | -1.372 | Destabilizing | 0.176 | N | 0.435 | neutral | None | None | None | None | N |
| C/D | 0.996 | likely_pathogenic | 0.9952 | pathogenic | -0.67 | Destabilizing | 0.828 | D | 0.776 | deleterious | None | None | None | None | N |
| C/E | 0.997 | likely_pathogenic | 0.9965 | pathogenic | -0.48 | Destabilizing | 0.828 | D | 0.785 | deleterious | None | None | None | None | N |
| C/F | 0.5284 | ambiguous | 0.4464 | ambiguous | -1.199 | Destabilizing | 0.927 | D | 0.793 | deleterious | N | 0.462224071 | None | None | N |
| C/G | 0.5193 | ambiguous | 0.452 | ambiguous | -1.686 | Destabilizing | 0.002 | N | 0.59 | neutral | N | 0.472138799 | None | None | N |
| C/H | 0.982 | likely_pathogenic | 0.9785 | pathogenic | -2.097 | Highly Destabilizing | 0.995 | D | 0.771 | deleterious | None | None | None | None | N |
| C/I | 0.5279 | ambiguous | 0.4626 | ambiguous | -0.55 | Destabilizing | 0.013 | N | 0.48 | neutral | None | None | None | None | N |
| C/K | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -0.261 | Destabilizing | 0.828 | D | 0.759 | deleterious | None | None | None | None | N |
| C/L | 0.574 | likely_pathogenic | 0.5239 | ambiguous | -0.55 | Destabilizing | 0.176 | N | 0.539 | neutral | None | None | None | None | N |
| C/M | 0.811 | likely_pathogenic | 0.7757 | pathogenic | -0.323 | Destabilizing | 0.944 | D | 0.776 | deleterious | None | None | None | None | N |
| C/N | 0.981 | likely_pathogenic | 0.9762 | pathogenic | -0.714 | Destabilizing | 0.893 | D | 0.794 | deleterious | None | None | None | None | N |
| C/P | 0.9962 | likely_pathogenic | 0.9962 | pathogenic | -0.8 | Destabilizing | 0.981 | D | 0.793 | deleterious | None | None | None | None | N |
| C/Q | 0.9889 | likely_pathogenic | 0.9873 | pathogenic | -0.398 | Destabilizing | 0.981 | D | 0.788 | deleterious | None | None | None | None | N |
| C/R | 0.9795 | likely_pathogenic | 0.9776 | pathogenic | -0.765 | Destabilizing | 0.927 | D | 0.791 | deleterious | N | 0.491257012 | None | None | N |
| C/S | 0.722 | likely_pathogenic | 0.6538 | pathogenic | -1.047 | Destabilizing | 0.642 | D | 0.728 | prob.delet. | N | 0.467872838 | None | None | N |
| C/T | 0.7614 | likely_pathogenic | 0.6951 | pathogenic | -0.655 | Destabilizing | 0.495 | N | 0.701 | prob.neutral | None | None | None | None | N |
| C/V | 0.391 | ambiguous | 0.3476 | ambiguous | -0.8 | Destabilizing | 0.004 | N | 0.451 | neutral | None | None | None | None | N |
| C/W | 0.953 | likely_pathogenic | 0.9443 | pathogenic | -1.416 | Destabilizing | 0.993 | D | 0.744 | deleterious | N | 0.473152757 | None | None | N |
| C/Y | 0.8429 | likely_pathogenic | 0.813 | pathogenic | -1.162 | Destabilizing | 0.975 | D | 0.787 | deleterious | N | 0.490750033 | 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.