Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18319 | 55180;55181;55182 | chr2:178602447;178602446;178602445 | chr2:179467174;179467173;179467172 |
| N2AB | 16678 | 50257;50258;50259 | chr2:178602447;178602446;178602445 | chr2:179467174;179467173;179467172 |
| N2A | 15751 | 47476;47477;47478 | chr2:178602447;178602446;178602445 | chr2:179467174;179467173;179467172 |
| N2B | 9254 | 27985;27986;27987 | chr2:178602447;178602446;178602445 | chr2:179467174;179467173;179467172 |
| Novex-1 | 9379 | 28360;28361;28362 | chr2:178602447;178602446;178602445 | chr2:179467174;179467173;179467172 |
| Novex-2 | 9446 | 28561;28562;28563 | chr2:178602447;178602446;178602445 | chr2:179467174;179467173;179467172 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | None | None | 1.0 | D | 0.643 | 0.677 | 0.730648570721 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9905 | likely_pathogenic | 0.9938 | pathogenic | -2.876 | Highly Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| W/C | 0.9906 | likely_pathogenic | 0.9951 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.651 | neutral | D | 0.525394245 | None | None | N |
| W/D | 0.9964 | likely_pathogenic | 0.9978 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/E | 0.9962 | likely_pathogenic | 0.9977 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| W/F | 0.6272 | likely_pathogenic | 0.6841 | pathogenic | -1.876 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| W/G | 0.9474 | likely_pathogenic | 0.9615 | pathogenic | -3.066 | Highly Destabilizing | 1.0 | D | 0.643 | neutral | D | 0.524380287 | None | None | N |
| W/H | 0.9884 | likely_pathogenic | 0.9922 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| W/I | 0.982 | likely_pathogenic | 0.9883 | pathogenic | -2.2 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/K | 0.9975 | likely_pathogenic | 0.9984 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/L | 0.9535 | likely_pathogenic | 0.9675 | pathogenic | -2.2 | Highly Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.511591949 | None | None | N |
| W/M | 0.9839 | likely_pathogenic | 0.99 | pathogenic | -1.591 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| W/N | 0.9952 | likely_pathogenic | 0.9972 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| W/P | 0.994 | likely_pathogenic | 0.996 | pathogenic | -2.439 | Highly Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| W/Q | 0.9972 | likely_pathogenic | 0.9982 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| W/R | 0.9947 | likely_pathogenic | 0.9967 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.512605907 | None | None | N |
| W/S | 0.9785 | likely_pathogenic | 0.9846 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.512098928 | None | None | N |
| W/T | 0.9865 | likely_pathogenic | 0.991 | pathogenic | -1.861 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| W/V | 0.9809 | likely_pathogenic | 0.9887 | pathogenic | -2.439 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8552 | likely_pathogenic | 0.8981 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.555 | 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.