Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24977 | 75154;75155;75156 | chr2:178571203;178571202;178571201 | chr2:179435930;179435929;179435928 |
| N2AB | 23336 | 70231;70232;70233 | chr2:178571203;178571202;178571201 | chr2:179435930;179435929;179435928 |
| N2A | 22409 | 67450;67451;67452 | chr2:178571203;178571202;178571201 | chr2:179435930;179435929;179435928 |
| N2B | 15912 | 47959;47960;47961 | chr2:178571203;178571202;178571201 | chr2:179435930;179435929;179435928 |
| Novex-1 | 16037 | 48334;48335;48336 | chr2:178571203;178571202;178571201 | chr2:179435930;179435929;179435928 |
| Novex-2 | 16104 | 48535;48536;48537 | chr2:178571203;178571202;178571201 | chr2:179435930;179435929;179435928 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1156726146  |
-1.579 | 0.01 | N | 0.272 | 0.158 | 0.352910780287 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1156726146 |
-1.579 | 0.01 | N | 0.272 | 0.158 | 0.352910780287 | gnomAD-4.0.0 | 2.05294E-06 | None | None | None | None | N | None | 5.97943E-05 | 0 | None | 0 | 2.5222E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1885 | likely_benign | 0.1846 | benign | -1.594 | Destabilizing | 0.01 | N | 0.272 | neutral | N | 0.447272064 | None | None | N |
| V/C | 0.5552 | ambiguous | 0.5471 | ambiguous | -0.921 | Destabilizing | 0.628 | D | 0.449 | neutral | None | None | None | None | N |
| V/D | 0.5193 | ambiguous | 0.4958 | ambiguous | -1.674 | Destabilizing | 0.029 | N | 0.484 | neutral | N | 0.502973419 | None | None | N |
| V/E | 0.4318 | ambiguous | 0.4096 | ambiguous | -1.609 | Destabilizing | 0.072 | N | 0.435 | neutral | None | None | None | None | N |
| V/F | 0.1486 | likely_benign | 0.1466 | benign | -1.127 | Destabilizing | 0.055 | N | 0.467 | neutral | N | 0.49739424 | None | None | N |
| V/G | 0.2377 | likely_benign | 0.226 | benign | -1.973 | Destabilizing | 0.029 | N | 0.412 | neutral | N | 0.453854107 | None | None | N |
| V/H | 0.5419 | ambiguous | 0.5328 | ambiguous | -1.577 | Destabilizing | 0.356 | N | 0.509 | neutral | None | None | None | None | N |
| V/I | 0.0613 | likely_benign | 0.0594 | benign | -0.62 | Destabilizing | None | N | 0.073 | neutral | N | 0.40169449 | None | None | N |
| V/K | 0.458 | ambiguous | 0.4388 | ambiguous | -1.271 | Destabilizing | 0.072 | N | 0.438 | neutral | None | None | None | None | N |
| V/L | 0.0892 | likely_benign | 0.0941 | benign | -0.62 | Destabilizing | None | N | 0.053 | neutral | N | 0.399366261 | None | None | N |
| V/M | 0.0877 | likely_benign | 0.0877 | benign | -0.429 | Destabilizing | 0.214 | N | 0.432 | neutral | None | None | None | None | N |
| V/N | 0.2483 | likely_benign | 0.2431 | benign | -1.21 | Destabilizing | None | N | 0.246 | neutral | None | None | None | None | N |
| V/P | 0.8837 | likely_pathogenic | 0.8604 | pathogenic | -0.912 | Destabilizing | 0.628 | D | 0.511 | neutral | None | None | None | None | N |
| V/Q | 0.3542 | ambiguous | 0.3465 | ambiguous | -1.301 | Destabilizing | 0.214 | N | 0.499 | neutral | None | None | None | None | N |
| V/R | 0.3517 | ambiguous | 0.3441 | ambiguous | -0.827 | Destabilizing | 0.214 | N | 0.547 | neutral | None | None | None | None | N |
| V/S | 0.2011 | likely_benign | 0.1962 | benign | -1.745 | Destabilizing | 0.016 | N | 0.383 | neutral | None | None | None | None | N |
| V/T | 0.1592 | likely_benign | 0.1527 | benign | -1.569 | Destabilizing | 0.031 | N | 0.305 | neutral | None | None | None | None | N |
| V/W | 0.6696 | likely_pathogenic | 0.6664 | pathogenic | -1.46 | Destabilizing | 0.864 | D | 0.502 | neutral | None | None | None | None | N |
| V/Y | 0.4542 | ambiguous | 0.447 | ambiguous | -1.104 | Destabilizing | 0.356 | N | 0.47 | 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.