Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28501 | 85726;85727;85728 | chr2:178560631;178560630;178560629 | chr2:179425358;179425357;179425356 |
| N2AB | 26860 | 80803;80804;80805 | chr2:178560631;178560630;178560629 | chr2:179425358;179425357;179425356 |
| N2A | 25933 | 78022;78023;78024 | chr2:178560631;178560630;178560629 | chr2:179425358;179425357;179425356 |
| N2B | 19436 | 58531;58532;58533 | chr2:178560631;178560630;178560629 | chr2:179425358;179425357;179425356 |
| Novex-1 | 19561 | 58906;58907;58908 | chr2:178560631;178560630;178560629 | chr2:179425358;179425357;179425356 |
| Novex-2 | 19628 | 59107;59108;59109 | chr2:178560631;178560630;178560629 | chr2:179425358;179425357;179425356 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs1559289598  |
None | 0.792 | N | 0.57 | 0.35 | 0.733070251028 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66168E-04 |
| C/R | rs1559289598 |
None | 0.792 | N | 0.57 | 0.35 | 0.733070251028 | gnomAD-4.0.0 | 2.05291E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79894E-06 | 0 | 1.65673E-05 |
| C/S | rs1559289598 |
-0.841 | 0.684 | N | 0.484 | 0.308 | 0.576606569037 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/S | rs1559289598 |
-0.841 | 0.684 | N | 0.484 | 0.308 | 0.576606569037 | gnomAD-4.0.0 | 1.59178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4249 | ambiguous | 0.4693 | ambiguous | -1.322 | Destabilizing | 0.341 | N | 0.291 | neutral | None | None | None | None | N |
| C/D | 0.8815 | likely_pathogenic | 0.9207 | pathogenic | -0.063 | Destabilizing | 0.742 | D | 0.533 | neutral | None | None | None | None | N |
| C/E | 0.8901 | likely_pathogenic | 0.9285 | pathogenic | -0.009 | Destabilizing | 0.59 | D | 0.523 | neutral | None | None | None | None | N |
| C/F | 0.2647 | likely_benign | 0.2932 | benign | -0.809 | Destabilizing | 0.939 | D | 0.543 | neutral | N | 0.471031572 | None | None | N |
| C/G | 0.3408 | ambiguous | 0.3888 | ambiguous | -1.584 | Destabilizing | 0.684 | D | 0.527 | neutral | D | 0.52313526 | None | None | N |
| C/H | 0.6465 | likely_pathogenic | 0.7154 | pathogenic | -1.546 | Destabilizing | 0.987 | D | 0.56 | neutral | None | None | None | None | N |
| C/I | 0.3516 | ambiguous | 0.3892 | ambiguous | -0.675 | Destabilizing | 0.373 | N | 0.455 | neutral | None | None | None | None | N |
| C/K | 0.8951 | likely_pathogenic | 0.9234 | pathogenic | -0.733 | Destabilizing | 0.59 | D | 0.524 | neutral | None | None | None | None | N |
| C/L | 0.4063 | ambiguous | 0.4439 | ambiguous | -0.675 | Destabilizing | 0.373 | N | 0.415 | neutral | None | None | None | None | N |
| C/M | 0.593 | likely_pathogenic | 0.6568 | pathogenic | 0.069 | Stabilizing | 0.953 | D | 0.556 | neutral | None | None | None | None | N |
| C/N | 0.7192 | likely_pathogenic | 0.801 | pathogenic | -0.591 | Destabilizing | 0.91 | D | 0.571 | neutral | None | None | None | None | N |
| C/P | 0.9068 | likely_pathogenic | 0.9351 | pathogenic | -0.864 | Destabilizing | 0.953 | D | 0.569 | neutral | None | None | None | None | N |
| C/Q | 0.7693 | likely_pathogenic | 0.82 | pathogenic | -0.586 | Destabilizing | 0.037 | N | 0.447 | neutral | None | None | None | None | N |
| C/R | 0.6396 | likely_pathogenic | 0.6734 | pathogenic | -0.472 | Destabilizing | 0.792 | D | 0.57 | neutral | N | 0.510878039 | None | None | N |
| C/S | 0.3494 | ambiguous | 0.4296 | ambiguous | -1.119 | Destabilizing | 0.684 | D | 0.484 | neutral | N | 0.511398114 | None | None | N |
| C/T | 0.435 | ambiguous | 0.5152 | ambiguous | -0.899 | Destabilizing | 0.742 | D | 0.491 | neutral | None | None | None | None | N |
| C/V | 0.2727 | likely_benign | 0.297 | benign | -0.864 | Destabilizing | 0.016 | N | 0.232 | neutral | None | None | None | None | N |
| C/W | 0.5798 | likely_pathogenic | 0.6234 | pathogenic | -0.776 | Destabilizing | 0.994 | D | 0.549 | neutral | N | 0.476039593 | None | None | N |
| C/Y | 0.3774 | ambiguous | 0.4322 | ambiguous | -0.75 | Destabilizing | 0.979 | D | 0.544 | neutral | N | 0.504202783 | 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.