Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3327 | 10204;10205;10206 | chr2:178764536;178764535;178764534 | chr2:179629263;179629262;179629261 |
| N2AB | 3327 | 10204;10205;10206 | chr2:178764536;178764535;178764534 | chr2:179629263;179629262;179629261 |
| N2A | 3327 | 10204;10205;10206 | chr2:178764536;178764535;178764534 | chr2:179629263;179629262;179629261 |
| N2B | 3281 | 10066;10067;10068 | chr2:178764536;178764535;178764534 | chr2:179629263;179629262;179629261 |
| Novex-1 | 3281 | 10066;10067;10068 | chr2:178764536;178764535;178764534 | chr2:179629263;179629262;179629261 |
| Novex-2 | 3281 | 10066;10067;10068 | chr2:178764536;178764535;178764534 | chr2:179629263;179629262;179629261 |
| Novex-3 | 3327 | 10204;10205;10206 | chr2:178764536;178764535;178764534 | chr2:179629263;179629262;179629261 |
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 | rs1561162422  |
None | 0.473 | N | 0.515 | 0.258 | 0.626644753645 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.93E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/L | rs1561162422 |
None | 0.473 | N | 0.515 | 0.258 | 0.626644753645 | gnomAD-4.0.0 | 1.59069E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76554E-05 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0818 | likely_benign | 0.0872 | benign | -0.764 | Destabilizing | 0.27 | N | 0.359 | neutral | N | 0.503468938 | None | None | N |
| S/C | 0.1892 | likely_benign | 0.1711 | benign | -0.622 | Destabilizing | 0.995 | D | 0.431 | neutral | None | None | None | None | N |
| S/D | 0.4081 | ambiguous | 0.3712 | ambiguous | -0.132 | Destabilizing | 0.543 | D | 0.29 | neutral | None | None | None | None | N |
| S/E | 0.4479 | ambiguous | 0.4398 | ambiguous | -0.163 | Destabilizing | 0.704 | D | 0.29 | neutral | None | None | None | None | N |
| S/F | 0.1863 | likely_benign | 0.1698 | benign | -1.063 | Destabilizing | 0.007 | N | 0.389 | neutral | None | None | None | None | N |
| S/G | 0.1852 | likely_benign | 0.1687 | benign | -0.966 | Destabilizing | 0.495 | N | 0.317 | neutral | None | None | None | None | N |
| S/H | 0.2788 | likely_benign | 0.264 | benign | -1.437 | Destabilizing | 0.017 | N | 0.267 | neutral | None | None | None | None | N |
| S/I | 0.1645 | likely_benign | 0.1566 | benign | -0.339 | Destabilizing | 0.704 | D | 0.538 | neutral | None | None | None | None | N |
| S/K | 0.5619 | ambiguous | 0.5626 | ambiguous | -0.681 | Destabilizing | 0.704 | D | 0.291 | neutral | None | None | None | None | N |
| S/L | 0.102 | likely_benign | 0.095 | benign | -0.339 | Destabilizing | 0.473 | N | 0.515 | neutral | N | 0.500013251 | None | None | N |
| S/M | 0.2014 | likely_benign | 0.184 | benign | -0.094 | Destabilizing | 0.944 | D | 0.455 | neutral | None | None | None | None | N |
| S/N | 0.1501 | likely_benign | 0.1378 | benign | -0.579 | Destabilizing | 0.013 | N | 0.065 | neutral | None | None | None | None | N |
| S/P | 0.8446 | likely_pathogenic | 0.8803 | pathogenic | -0.449 | Destabilizing | 0.927 | D | 0.481 | neutral | D | 0.628522039 | None | None | N |
| S/Q | 0.408 | ambiguous | 0.4159 | ambiguous | -0.801 | Destabilizing | 0.944 | D | 0.405 | neutral | None | None | None | None | N |
| S/R | 0.4255 | ambiguous | 0.4438 | ambiguous | -0.518 | Destabilizing | 0.704 | D | 0.47 | neutral | None | None | None | None | N |
| S/T | 0.0736 | likely_benign | 0.0668 | benign | -0.658 | Destabilizing | 0.01 | N | 0.068 | neutral | N | 0.412806133 | None | None | N |
| S/V | 0.1791 | likely_benign | 0.1743 | benign | -0.449 | Destabilizing | 0.543 | D | 0.535 | neutral | None | None | None | None | N |
| S/W | 0.3769 | ambiguous | 0.3267 | benign | -0.986 | Destabilizing | 0.995 | D | 0.551 | neutral | None | None | None | None | N |
| S/Y | 0.1858 | likely_benign | 0.1775 | benign | -0.738 | Destabilizing | 0.807 | D | 0.532 | 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.