Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3844 | 11755;11756;11757 | chr2:178741703;178741702;178741701 | chr2:179606430;179606429;179606428 |
| N2AB | 3527 | 10804;10805;10806 | chr2:178741703;178741702;178741701 | chr2:179606430;179606429;179606428 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3481 | 10666;10667;10668 | chr2:178741703;178741702;178741701 | chr2:179606430;179606429;179606428 |
| Novex-1 | 3606 | 11041;11042;11043 | chr2:178741703;178741702;178741701 | chr2:179606430;179606429;179606428 |
| Novex-2 | 3673 | 11242;11243;11244 | chr2:178741703;178741702;178741701 | chr2:179606430;179606429;179606428 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/S | None | None | None | N | 0.191 | 0.14 | None | gnomAD-4.0.0 | 6.84224E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| I/T | rs1257974534  |
-1.699 | None | N | 0.121 | 0.149 | None | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.81E-06 | 1.40449E-04 |
| I/T | rs1257974534 |
-1.699 | None | N | 0.121 | 0.149 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs1257974534 |
-1.699 | None | N | 0.121 | 0.149 | None | gnomAD-4.0.0 | 8.67531E-06 | None | None | None | None | I | None | 1.3328E-05 | 0 | None | 0 | 0 | None | 1.56211E-05 | 0 | 8.47637E-06 | 1.09794E-05 | 1.60056E-05 |
| I/V | rs1266364042 |
None | None | N | 0.077 | 0.089 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs1266364042 |
None | None | N | 0.077 | 0.089 | None | gnomAD-4.0.0 | 2.56241E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.24014E-04 | 2.39333E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1131 | likely_benign | 0.101 | benign | -1.344 | Destabilizing | None | N | 0.129 | neutral | None | None | None | None | I |
| I/C | 0.4798 | ambiguous | 0.4918 | ambiguous | -0.771 | Destabilizing | 0.245 | N | 0.315 | neutral | None | None | None | None | I |
| I/D | 0.4243 | ambiguous | 0.392 | ambiguous | -0.877 | Destabilizing | 0.018 | N | 0.411 | neutral | None | None | None | None | I |
| I/E | 0.2953 | likely_benign | 0.2756 | benign | -0.879 | Destabilizing | 0.018 | N | 0.34 | neutral | None | None | None | None | I |
| I/F | 0.1194 | likely_benign | 0.1066 | benign | -0.852 | Destabilizing | 0.033 | N | 0.265 | neutral | N | 0.453581157 | None | None | I |
| I/G | 0.4328 | ambiguous | 0.3672 | ambiguous | -1.645 | Destabilizing | 0.004 | N | 0.309 | neutral | None | None | None | None | I |
| I/H | 0.2873 | likely_benign | 0.2659 | benign | -0.77 | Destabilizing | 0.497 | N | 0.432 | neutral | None | None | None | None | I |
| I/K | 0.1391 | likely_benign | 0.1296 | benign | -0.973 | Destabilizing | 0.018 | N | 0.339 | neutral | None | None | None | None | I |
| I/L | 0.1069 | likely_benign | 0.1022 | benign | -0.599 | Destabilizing | None | N | 0.047 | neutral | N | 0.46871047 | None | None | I |
| I/M | 0.0779 | likely_benign | 0.0755 | benign | -0.501 | Destabilizing | 0.033 | N | 0.361 | neutral | N | 0.495240634 | None | None | I |
| I/N | 0.1564 | likely_benign | 0.1372 | benign | -0.812 | Destabilizing | 0.014 | N | 0.408 | neutral | N | 0.471645818 | None | None | I |
| I/P | 0.652 | likely_pathogenic | 0.6621 | pathogenic | -0.816 | Destabilizing | 0.085 | N | 0.49 | neutral | None | None | None | None | I |
| I/Q | 0.2332 | likely_benign | 0.218 | benign | -0.977 | Destabilizing | 0.085 | N | 0.508 | neutral | None | None | None | None | I |
| I/R | 0.0873 | likely_benign | 0.079 | benign | -0.358 | Destabilizing | 0.044 | N | 0.49 | neutral | None | None | None | None | I |
| I/S | 0.1236 | likely_benign | 0.1059 | benign | -1.364 | Destabilizing | None | N | 0.191 | neutral | N | 0.348492893 | None | None | I |
| I/T | 0.0504 | likely_benign | 0.0455 | benign | -1.252 | Destabilizing | None | N | 0.121 | neutral | N | 0.379923796 | None | None | I |
| I/V | 0.0792 | likely_benign | 0.076 | benign | -0.816 | Destabilizing | None | N | 0.077 | neutral | N | 0.437569351 | None | None | I |
| I/W | 0.5185 | ambiguous | 0.527 | ambiguous | -0.929 | Destabilizing | 0.788 | D | 0.391 | neutral | None | None | None | None | I |
| I/Y | 0.3427 | ambiguous | 0.333 | benign | -0.71 | Destabilizing | 0.085 | N | 0.433 | neutral | None | None | None | None | I |
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.