Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21745 | 65458;65459;65460 | chr2:178584318;178584317;178584316 | chr2:179449045;179449044;179449043 |
| N2AB | 20104 | 60535;60536;60537 | chr2:178584318;178584317;178584316 | chr2:179449045;179449044;179449043 |
| N2A | 19177 | 57754;57755;57756 | chr2:178584318;178584317;178584316 | chr2:179449045;179449044;179449043 |
| N2B | 12680 | 38263;38264;38265 | chr2:178584318;178584317;178584316 | chr2:179449045;179449044;179449043 |
| Novex-1 | 12805 | 38638;38639;38640 | chr2:178584318;178584317;178584316 | chr2:179449045;179449044;179449043 |
| Novex-2 | 12872 | 38839;38840;38841 | chr2:178584318;178584317;178584316 | chr2:179449045;179449044;179449043 |
| 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 | rs2048457148  |
None | 1.0 | N | 0.827 | 0.486 | 0.619659205309 | 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 |
| P/L | rs2048457148 |
None | 1.0 | N | 0.827 | 0.486 | 0.619659205309 | gnomAD-4.0.0 | 3.04538E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61503E-06 | 0 | 0 |
| P/T | rs777182534 |
-1.554 | 1.0 | N | 0.763 | 0.426 | 0.510113526977 | gnomAD-2.1.1 | 8.23E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.83E-05 | 0 |
| P/T | rs777182534 |
-1.554 | 1.0 | N | 0.763 | 0.426 | 0.510113526977 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/T | rs777182534 |
-1.554 | 1.0 | N | 0.763 | 0.426 | 0.510113526977 | gnomAD-4.0.0 | 1.81222E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.3921E-05 | 0 | 1.6165E-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 | 0.0707 | likely_benign | 0.0699 | benign | -1.723 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.472125572 | None | None | N |
| P/C | 0.5207 | ambiguous | 0.4562 | ambiguous | -1.029 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/D | 0.9645 | likely_pathogenic | 0.947 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/E | 0.8129 | likely_pathogenic | 0.7726 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/F | 0.7408 | likely_pathogenic | 0.6827 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/G | 0.6521 | likely_pathogenic | 0.5473 | ambiguous | -2.076 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/H | 0.6317 | likely_pathogenic | 0.5529 | ambiguous | -1.603 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.5176037 | None | None | N |
| P/I | 0.5709 | likely_pathogenic | 0.5202 | ambiguous | -0.83 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/K | 0.8275 | likely_pathogenic | 0.7632 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| P/L | 0.4043 | ambiguous | 0.3182 | benign | -0.83 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.49696455 | None | None | N |
| P/M | 0.5696 | likely_pathogenic | 0.5384 | ambiguous | -0.6 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/N | 0.9049 | likely_pathogenic | 0.8647 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/Q | 0.5166 | ambiguous | 0.4598 | ambiguous | -1.296 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/R | 0.6613 | likely_pathogenic | 0.5674 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.527946048 | None | None | N |
| P/S | 0.3326 | likely_benign | 0.2808 | benign | -1.706 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.491395143 | None | None | N |
| P/T | 0.3878 | ambiguous | 0.3362 | benign | -1.566 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.510259866 | None | None | N |
| P/V | 0.3369 | likely_benign | 0.3114 | benign | -1.095 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/W | 0.913 | likely_pathogenic | 0.8619 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/Y | 0.7764 | likely_pathogenic | 0.7174 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.859 | 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.