Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16071 | 48436;48437;48438 | chr2:178616580;178616579;178616578 | chr2:179481307;179481306;179481305 |
| N2AB | 14430 | 43513;43514;43515 | chr2:178616580;178616579;178616578 | chr2:179481307;179481306;179481305 |
| N2A | 13503 | 40732;40733;40734 | chr2:178616580;178616579;178616578 | chr2:179481307;179481306;179481305 |
| N2B | 7006 | 21241;21242;21243 | chr2:178616580;178616579;178616578 | chr2:179481307;179481306;179481305 |
| Novex-1 | 7131 | 21616;21617;21618 | chr2:178616580;178616579;178616578 | chr2:179481307;179481306;179481305 |
| Novex-2 | 7198 | 21817;21818;21819 | chr2:178616580;178616579;178616578 | chr2:179481307;179481306;179481305 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs794727332  |
0.371 | 0.669 | D | 0.56 | 0.438 | None | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/L | rs794727332 |
0.371 | 0.669 | D | 0.56 | 0.438 | None | gnomAD-4.0.0 | 2.19121E-05 | None | None | None | None | N | None | 2.99509E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7E-05 | 0 | 1.65876E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0875 | likely_benign | 0.0952 | benign | -0.539 | Destabilizing | 0.454 | N | 0.391 | neutral | D | 0.539984933 | None | None | N |
| S/C | 0.0855 | likely_benign | 0.1161 | benign | -0.644 | Destabilizing | 0.998 | D | 0.613 | neutral | None | None | None | None | N |
| S/D | 0.5742 | likely_pathogenic | 0.6696 | pathogenic | -1.414 | Destabilizing | 0.842 | D | 0.516 | neutral | None | None | None | None | N |
| S/E | 0.5724 | likely_pathogenic | 0.6772 | pathogenic | -1.342 | Destabilizing | 0.842 | D | 0.481 | neutral | None | None | None | None | N |
| S/F | 0.1955 | likely_benign | 0.2763 | benign | -0.583 | Destabilizing | 0.974 | D | 0.68 | prob.neutral | None | None | None | None | N |
| S/G | 0.1131 | likely_benign | 0.1458 | benign | -0.849 | Destabilizing | 0.688 | D | 0.467 | neutral | None | None | None | None | N |
| S/H | 0.2678 | likely_benign | 0.3953 | ambiguous | -1.471 | Destabilizing | 0.016 | N | 0.295 | neutral | None | None | None | None | N |
| S/I | 0.2727 | likely_benign | 0.3592 | ambiguous | 0.192 | Stabilizing | 0.949 | D | 0.657 | neutral | None | None | None | None | N |
| S/K | 0.5694 | likely_pathogenic | 0.7116 | pathogenic | -0.813 | Destabilizing | 0.842 | D | 0.516 | neutral | None | None | None | None | N |
| S/L | 0.1337 | likely_benign | 0.1583 | benign | 0.192 | Stabilizing | 0.669 | D | 0.56 | neutral | D | 0.648318702 | None | None | N |
| S/M | 0.1678 | likely_benign | 0.2344 | benign | 0.316 | Stabilizing | 0.991 | D | 0.625 | neutral | None | None | None | None | N |
| S/N | 0.1779 | likely_benign | 0.2388 | benign | -1.153 | Destabilizing | 0.842 | D | 0.502 | neutral | None | None | None | None | N |
| S/P | 0.9796 | likely_pathogenic | 0.986 | pathogenic | -0.016 | Destabilizing | 0.966 | D | 0.643 | neutral | D | 0.736505982 | None | None | N |
| S/Q | 0.4468 | ambiguous | 0.5922 | pathogenic | -1.171 | Destabilizing | 0.974 | D | 0.583 | neutral | None | None | None | None | N |
| S/R | 0.4576 | ambiguous | 0.5916 | pathogenic | -0.875 | Destabilizing | 0.842 | D | 0.617 | neutral | None | None | None | None | N |
| S/T | 0.0736 | likely_benign | 0.0835 | benign | -0.879 | Destabilizing | 0.022 | N | 0.195 | neutral | N | 0.483820019 | None | None | N |
| S/V | 0.2415 | likely_benign | 0.3228 | benign | -0.016 | Destabilizing | 0.728 | D | 0.565 | neutral | None | None | None | None | N |
| S/W | 0.4273 | ambiguous | 0.5474 | ambiguous | -0.775 | Destabilizing | 0.998 | D | 0.709 | prob.delet. | None | None | None | None | N |
| S/Y | 0.1847 | likely_benign | 0.2512 | benign | -0.398 | Destabilizing | 0.949 | D | 0.657 | 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.