Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15268 | 46027;46028;46029 | chr2:178620808;178620807;178620806 | chr2:179485535;179485534;179485533 |
| N2AB | 13627 | 41104;41105;41106 | chr2:178620808;178620807;178620806 | chr2:179485535;179485534;179485533 |
| N2A | 12700 | 38323;38324;38325 | chr2:178620808;178620807;178620806 | chr2:179485535;179485534;179485533 |
| N2B | 6203 | 18832;18833;18834 | chr2:178620808;178620807;178620806 | chr2:179485535;179485534;179485533 |
| Novex-1 | 6328 | 19207;19208;19209 | chr2:178620808;178620807;178620806 | chr2:179485535;179485534;179485533 |
| Novex-2 | 6395 | 19408;19409;19410 | chr2:178620808;178620807;178620806 | chr2:179485535;179485534;179485533 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs2058150967  |
None | None | N | 0.235 | 0.159 | 0.154104182512 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/H | None | None | 0.317 | N | 0.372 | 0.108 | 0.126345400529 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2036 | likely_benign | 0.2159 | benign | -0.277 | Destabilizing | 0.002 | N | 0.276 | neutral | N | 0.455741151 | None | None | N |
| D/C | 0.6564 | likely_pathogenic | 0.6674 | pathogenic | -0.081 | Destabilizing | 0.935 | D | 0.527 | neutral | None | None | None | None | N |
| D/E | 0.1894 | likely_benign | 0.2147 | benign | -0.595 | Destabilizing | 0.002 | N | 0.323 | neutral | N | 0.443063284 | None | None | N |
| D/F | 0.6177 | likely_pathogenic | 0.6117 | pathogenic | -0.374 | Destabilizing | 0.791 | D | 0.495 | neutral | None | None | None | None | N |
| D/G | 0.151 | likely_benign | 0.157 | benign | -0.541 | Destabilizing | None | N | 0.235 | neutral | N | 0.455041065 | None | None | N |
| D/H | 0.2983 | likely_benign | 0.31 | benign | -0.754 | Destabilizing | 0.317 | N | 0.372 | neutral | N | 0.451403865 | None | None | N |
| D/I | 0.5687 | likely_pathogenic | 0.5671 | pathogenic | 0.388 | Stabilizing | 0.555 | D | 0.513 | neutral | None | None | None | None | N |
| D/K | 0.3902 | ambiguous | 0.4002 | ambiguous | -0.527 | Destabilizing | 0.081 | N | 0.391 | neutral | None | None | None | None | N |
| D/L | 0.4981 | ambiguous | 0.4854 | ambiguous | 0.388 | Stabilizing | 0.38 | N | 0.49 | neutral | None | None | None | None | N |
| D/M | 0.6982 | likely_pathogenic | 0.7156 | pathogenic | 0.754 | Stabilizing | 0.935 | D | 0.492 | neutral | None | None | None | None | N |
| D/N | 0.0809 | likely_benign | 0.0897 | benign | -0.59 | Destabilizing | None | N | 0.289 | neutral | N | 0.429651173 | None | None | N |
| D/P | 0.8646 | likely_pathogenic | 0.8482 | pathogenic | 0.191 | Stabilizing | 0.555 | D | 0.377 | neutral | None | None | None | None | N |
| D/Q | 0.3852 | ambiguous | 0.4127 | ambiguous | -0.496 | Destabilizing | 0.38 | N | 0.389 | neutral | None | None | None | None | N |
| D/R | 0.4348 | ambiguous | 0.4348 | ambiguous | -0.446 | Destabilizing | 0.38 | N | 0.481 | neutral | None | None | None | None | N |
| D/S | 0.1406 | likely_benign | 0.1534 | benign | -0.787 | Destabilizing | 0.081 | N | 0.395 | neutral | None | None | None | None | N |
| D/T | 0.3478 | ambiguous | 0.3756 | ambiguous | -0.601 | Destabilizing | 0.081 | N | 0.39 | neutral | None | None | None | None | N |
| D/V | 0.3626 | ambiguous | 0.3521 | ambiguous | 0.191 | Stabilizing | 0.317 | N | 0.492 | neutral | N | 0.51951684 | None | None | N |
| D/W | 0.8869 | likely_pathogenic | 0.8693 | pathogenic | -0.413 | Destabilizing | 0.935 | D | 0.609 | neutral | None | None | None | None | N |
| D/Y | 0.2283 | likely_benign | 0.2183 | benign | -0.239 | Destabilizing | 0.741 | D | 0.495 | neutral | N | 0.478653206 | 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.