Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28839 | 86740;86741;86742 | chr2:178559617;178559616;178559615 | chr2:179424344;179424343;179424342 |
| N2AB | 27198 | 81817;81818;81819 | chr2:178559617;178559616;178559615 | chr2:179424344;179424343;179424342 |
| N2A | 26271 | 79036;79037;79038 | chr2:178559617;178559616;178559615 | chr2:179424344;179424343;179424342 |
| N2B | 19774 | 59545;59546;59547 | chr2:178559617;178559616;178559615 | chr2:179424344;179424343;179424342 |
| Novex-1 | 19899 | 59920;59921;59922 | chr2:178559617;178559616;178559615 | chr2:179424344;179424343;179424342 |
| Novex-2 | 19966 | 60121;60122;60123 | chr2:178559617;178559616;178559615 | chr2:179424344;179424343;179424342 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs1186404293  |
-0.205 | None | N | 0.179 | 0.09 | 0.523342287332 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65948E-04 |
| V/I | rs1186404293 |
-0.205 | None | N | 0.179 | 0.09 | 0.523342287332 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1186404293 |
-0.205 | None | N | 0.179 | 0.09 | 0.523342287332 | gnomAD-4.0.0 | 1.85911E-06 | None | None | None | None | N | None | 0 | 1.66722E-05 | None | 0 | 0 | None | 0 | 0 | 8.47624E-07 | 0 | 1.60123E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1341 | likely_benign | 0.1514 | benign | -1.265 | Destabilizing | 0.005 | N | 0.311 | neutral | N | 0.472085656 | None | None | N |
| V/C | 0.6702 | likely_pathogenic | 0.748 | pathogenic | -0.922 | Destabilizing | 0.864 | D | 0.546 | neutral | None | None | None | None | N |
| V/D | 0.4658 | ambiguous | 0.5034 | ambiguous | -0.613 | Destabilizing | 0.029 | N | 0.61 | neutral | N | 0.453577253 | None | None | N |
| V/E | 0.4806 | ambiguous | 0.5086 | ambiguous | -0.621 | Destabilizing | 0.072 | N | 0.595 | neutral | None | None | None | None | N |
| V/F | 0.1692 | likely_benign | 0.1928 | benign | -0.961 | Destabilizing | 0.171 | N | 0.582 | neutral | N | 0.47277909 | None | None | N |
| V/G | 0.2322 | likely_benign | 0.2736 | benign | -1.57 | Destabilizing | None | N | 0.365 | neutral | N | 0.515876506 | None | None | N |
| V/H | 0.5244 | ambiguous | 0.5887 | pathogenic | -1.064 | Destabilizing | 0.356 | N | 0.602 | neutral | None | None | None | None | N |
| V/I | 0.0746 | likely_benign | 0.0785 | benign | -0.544 | Destabilizing | None | N | 0.179 | neutral | N | 0.47277909 | None | None | N |
| V/K | 0.6002 | likely_pathogenic | 0.6366 | pathogenic | -0.923 | Destabilizing | 0.072 | N | 0.584 | neutral | None | None | None | None | N |
| V/L | 0.1523 | likely_benign | 0.1768 | benign | -0.544 | Destabilizing | 0.004 | N | 0.395 | neutral | N | 0.456540201 | None | None | N |
| V/M | 0.1141 | likely_benign | 0.1339 | benign | -0.48 | Destabilizing | 0.214 | N | 0.559 | neutral | None | None | None | None | N |
| V/N | 0.1894 | likely_benign | 0.2268 | benign | -0.693 | Destabilizing | None | N | 0.361 | neutral | None | None | None | None | N |
| V/P | 0.5882 | likely_pathogenic | 0.6234 | pathogenic | -0.748 | Destabilizing | 0.356 | N | 0.601 | neutral | None | None | None | None | N |
| V/Q | 0.3707 | ambiguous | 0.4221 | ambiguous | -0.844 | Destabilizing | 0.356 | N | 0.603 | neutral | None | None | None | None | N |
| V/R | 0.5253 | ambiguous | 0.5637 | ambiguous | -0.483 | Destabilizing | 0.214 | N | 0.617 | neutral | None | None | None | None | N |
| V/S | 0.1412 | likely_benign | 0.1747 | benign | -1.294 | Destabilizing | 0.003 | N | 0.304 | neutral | None | None | None | None | N |
| V/T | 0.1252 | likely_benign | 0.1405 | benign | -1.184 | Destabilizing | None | N | 0.168 | neutral | None | None | None | None | N |
| V/W | 0.7862 | likely_pathogenic | 0.8441 | pathogenic | -1.097 | Destabilizing | 0.864 | D | 0.621 | neutral | None | None | None | None | N |
| V/Y | 0.5148 | ambiguous | 0.586 | pathogenic | -0.798 | Destabilizing | 0.356 | N | 0.58 | 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.