Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27279 | 82060;82061;82062 | chr2:178564297;178564296;178564295 | chr2:179429024;179429023;179429022 |
| N2AB | 25638 | 77137;77138;77139 | chr2:178564297;178564296;178564295 | chr2:179429024;179429023;179429022 |
| N2A | 24711 | 74356;74357;74358 | chr2:178564297;178564296;178564295 | chr2:179429024;179429023;179429022 |
| N2B | 18214 | 54865;54866;54867 | chr2:178564297;178564296;178564295 | chr2:179429024;179429023;179429022 |
| Novex-1 | 18339 | 55240;55241;55242 | chr2:178564297;178564296;178564295 | chr2:179429024;179429023;179429022 |
| Novex-2 | 18406 | 55441;55442;55443 | chr2:178564297;178564296;178564295 | chr2:179429024;179429023;179429022 |
| 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 | rs776798967  |
None | 0.997 | N | 0.555 | 0.438 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs776798967 |
None | 0.997 | N | 0.555 | 0.438 | None | gnomAD-4.0.0 | 1.31536E-05 | None | None | None | None | N | None | 4.82905E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs776798967 |
0.108 | 0.997 | D | 0.576 | 0.391 | 0.46682414995 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65728E-04 |
| P/R | rs776798967 |
0.108 | 0.997 | D | 0.576 | 0.391 | 0.46682414995 | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02407E-05 |
| P/S | rs1323358528 |
-0.416 | 0.418 | N | 0.271 | 0.239 | 0.227260227426 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65782E-04 |
| P/S | rs1323358528 |
-0.416 | 0.418 | N | 0.271 | 0.239 | 0.227260227426 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
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 | 0.1108 | likely_benign | 0.0937 | benign | -0.476 | Destabilizing | 0.9 | D | 0.437 | neutral | N | 0.431964256 | None | None | N |
| P/C | 0.6285 | likely_pathogenic | 0.6043 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| P/D | 0.5643 | likely_pathogenic | 0.5468 | ambiguous | -0.528 | Destabilizing | 0.983 | D | 0.478 | neutral | None | None | None | None | N |
| P/E | 0.3706 | ambiguous | 0.3429 | ambiguous | -0.633 | Destabilizing | 0.983 | D | 0.483 | neutral | None | None | None | None | N |
| P/F | 0.5798 | likely_pathogenic | 0.5465 | ambiguous | -0.721 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| P/G | 0.3993 | ambiguous | 0.3775 | ambiguous | -0.585 | Destabilizing | 0.983 | D | 0.469 | neutral | None | None | None | None | N |
| P/H | 0.3002 | likely_benign | 0.2707 | benign | -0.082 | Destabilizing | 1.0 | D | 0.592 | neutral | None | None | None | None | N |
| P/I | 0.3186 | likely_benign | 0.3094 | benign | -0.328 | Destabilizing | 0.998 | D | 0.613 | neutral | None | None | None | None | N |
| P/K | 0.3918 | ambiguous | 0.3732 | ambiguous | -0.52 | Destabilizing | 0.983 | D | 0.479 | neutral | None | None | None | None | N |
| P/L | 0.159 | likely_benign | 0.1462 | benign | -0.328 | Destabilizing | 0.997 | D | 0.555 | neutral | N | 0.483710411 | None | None | N |
| P/M | 0.3278 | likely_benign | 0.3168 | benign | -0.533 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| P/N | 0.4484 | ambiguous | 0.4196 | ambiguous | -0.313 | Destabilizing | 0.995 | D | 0.523 | neutral | None | None | None | None | N |
| P/Q | 0.2311 | likely_benign | 0.2086 | benign | -0.541 | Destabilizing | 0.997 | D | 0.537 | neutral | N | 0.515678931 | None | None | N |
| P/R | 0.2738 | likely_benign | 0.2501 | benign | 0.013 | Stabilizing | 0.997 | D | 0.576 | neutral | D | 0.526722644 | None | None | N |
| P/S | 0.1831 | likely_benign | 0.1568 | benign | -0.61 | Destabilizing | 0.418 | N | 0.271 | neutral | N | 0.436602072 | None | None | N |
| P/T | 0.1398 | likely_benign | 0.1254 | benign | -0.621 | Destabilizing | 0.956 | D | 0.472 | neutral | N | 0.515678931 | None | None | N |
| P/V | 0.2162 | likely_benign | 0.2092 | benign | -0.346 | Destabilizing | 0.998 | D | 0.511 | neutral | None | None | None | None | N |
| P/W | 0.7201 | likely_pathogenic | 0.6886 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| P/Y | 0.5397 | ambiguous | 0.5156 | ambiguous | -0.52 | Destabilizing | 0.999 | D | 0.621 | 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.