Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20137 | 60634;60635;60636 | chr2:178591316;178591315;178591314 | chr2:179456043;179456042;179456041 |
| N2AB | 18496 | 55711;55712;55713 | chr2:178591316;178591315;178591314 | chr2:179456043;179456042;179456041 |
| N2A | 17569 | 52930;52931;52932 | chr2:178591316;178591315;178591314 | chr2:179456043;179456042;179456041 |
| N2B | 11072 | 33439;33440;33441 | chr2:178591316;178591315;178591314 | chr2:179456043;179456042;179456041 |
| Novex-1 | 11197 | 33814;33815;33816 | chr2:178591316;178591315;178591314 | chr2:179456043;179456042;179456041 |
| Novex-2 | 11264 | 34015;34016;34017 | chr2:178591316;178591315;178591314 | chr2:179456043;179456042;179456041 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | rs747842187  |
-1.312 | 0.961 | N | 0.647 | 0.398 | 0.402755899245 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/N | rs747842187 |
-1.312 | 0.961 | N | 0.647 | 0.398 | 0.402755899245 | gnomAD-4.0.0 | 2.56398E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78962E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1253 | likely_benign | 0.1318 | benign | -1.138 | Destabilizing | 0.835 | D | 0.523 | neutral | N | 0.496750055 | None | None | N |
| T/C | 0.3824 | ambiguous | 0.3994 | ambiguous | -0.973 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| T/D | 0.6568 | likely_pathogenic | 0.6891 | pathogenic | -1.346 | Destabilizing | 0.97 | D | 0.653 | neutral | None | None | None | None | N |
| T/E | 0.4647 | ambiguous | 0.4935 | ambiguous | -1.187 | Destabilizing | 0.97 | D | 0.654 | neutral | None | None | None | None | N |
| T/F | 0.2471 | likely_benign | 0.274 | benign | -0.737 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/G | 0.4496 | ambiguous | 0.4619 | ambiguous | -1.531 | Destabilizing | 0.97 | D | 0.679 | prob.neutral | None | None | None | None | N |
| T/H | 0.2717 | likely_benign | 0.2893 | benign | -1.638 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/I | 0.1527 | likely_benign | 0.1571 | benign | -0.124 | Destabilizing | 0.994 | D | 0.695 | prob.neutral | N | 0.474128671 | None | None | N |
| T/K | 0.3448 | ambiguous | 0.3705 | ambiguous | -0.79 | Destabilizing | 0.97 | D | 0.652 | neutral | None | None | None | None | N |
| T/L | 0.1155 | likely_benign | 0.1155 | benign | -0.124 | Destabilizing | 0.985 | D | 0.641 | neutral | None | None | None | None | N |
| T/M | 0.0957 | likely_benign | 0.0944 | benign | -0.146 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| T/N | 0.1764 | likely_benign | 0.1859 | benign | -1.289 | Destabilizing | 0.961 | D | 0.647 | neutral | N | 0.488053549 | None | None | N |
| T/P | 0.8453 | likely_pathogenic | 0.8703 | pathogenic | -0.43 | Destabilizing | 0.994 | D | 0.695 | prob.neutral | D | 0.524769038 | None | None | N |
| T/Q | 0.3038 | likely_benign | 0.322 | benign | -1.171 | Destabilizing | 0.996 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/R | 0.2851 | likely_benign | 0.3168 | benign | -0.856 | Destabilizing | 0.996 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/S | 0.1548 | likely_benign | 0.1608 | benign | -1.525 | Destabilizing | 0.287 | N | 0.362 | neutral | N | 0.469530928 | None | None | N |
| T/V | 0.1379 | likely_benign | 0.1398 | benign | -0.43 | Destabilizing | 0.985 | D | 0.626 | neutral | None | None | None | None | N |
| T/W | 0.5948 | likely_pathogenic | 0.6227 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/Y | 0.271 | likely_benign | 0.2986 | benign | -0.489 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | 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.