Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2551 | 7876;7877;7878 | chr2:178773313;178773312;178773311 | chr2:179638040;179638039;179638038 |
| N2AB | 2551 | 7876;7877;7878 | chr2:178773313;178773312;178773311 | chr2:179638040;179638039;179638038 |
| N2A | 2551 | 7876;7877;7878 | chr2:178773313;178773312;178773311 | chr2:179638040;179638039;179638038 |
| N2B | 2505 | 7738;7739;7740 | chr2:178773313;178773312;178773311 | chr2:179638040;179638039;179638038 |
| Novex-1 | 2505 | 7738;7739;7740 | chr2:178773313;178773312;178773311 | chr2:179638040;179638039;179638038 |
| Novex-2 | 2505 | 7738;7739;7740 | chr2:178773313;178773312;178773311 | chr2:179638040;179638039;179638038 |
| Novex-3 | 2551 | 7876;7877;7878 | chr2:178773313;178773312;178773311 | chr2:179638040;179638039;179638038 |
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/L | None | None | 0.017 | N | 0.476 | 0.058 | 0.27855597813 | gnomAD-4.0.0 | 6.8413E-07 | None | None | None | None | N | None | 2.98757E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | None | None | 0.655 | N | 0.609 | 0.127 | 0.356072328145 | gnomAD-4.0.0 | 6.8413E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65585E-05 |
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 | 0.1128 | likely_benign | 0.1279 | benign | -1.125 | Destabilizing | 0.047 | N | 0.478 | neutral | N | 0.446930853 | None | None | N |
| V/C | 0.5545 | ambiguous | 0.5992 | pathogenic | -0.844 | Destabilizing | 0.94 | D | 0.609 | neutral | None | None | None | None | N |
| V/D | 0.1891 | likely_benign | 0.1881 | benign | -0.747 | Destabilizing | 0.418 | N | 0.619 | neutral | None | None | None | None | N |
| V/E | 0.1639 | likely_benign | 0.1706 | benign | -0.736 | Destabilizing | 0.351 | N | 0.614 | neutral | N | 0.441607594 | None | None | N |
| V/F | 0.1703 | likely_benign | 0.1839 | benign | -0.775 | Destabilizing | 0.716 | D | 0.633 | neutral | None | None | None | None | N |
| V/G | 0.1775 | likely_benign | 0.1837 | benign | -1.433 | Destabilizing | 0.213 | N | 0.629 | neutral | N | 0.457646403 | None | None | N |
| V/H | 0.3845 | ambiguous | 0.4163 | ambiguous | -0.85 | Destabilizing | 0.983 | D | 0.659 | neutral | None | None | None | None | N |
| V/I | 0.0764 | likely_benign | 0.0824 | benign | -0.389 | Destabilizing | 0.002 | N | 0.293 | neutral | None | None | None | None | N |
| V/K | 0.2737 | likely_benign | 0.2635 | benign | -0.974 | Destabilizing | 0.418 | N | 0.612 | neutral | None | None | None | None | N |
| V/L | 0.1704 | likely_benign | 0.1858 | benign | -0.389 | Destabilizing | 0.017 | N | 0.476 | neutral | N | 0.446810725 | None | None | N |
| V/M | 0.1199 | likely_benign | 0.139 | benign | -0.426 | Destabilizing | 0.655 | D | 0.609 | neutral | N | 0.445476128 | None | None | N |
| V/N | 0.1444 | likely_benign | 0.1534 | benign | -0.837 | Destabilizing | 0.418 | N | 0.621 | neutral | None | None | None | None | N |
| V/P | 0.6917 | likely_pathogenic | 0.6733 | pathogenic | -0.598 | Destabilizing | 0.593 | D | 0.638 | neutral | None | None | None | None | N |
| V/Q | 0.2135 | likely_benign | 0.2249 | benign | -0.94 | Destabilizing | 0.836 | D | 0.621 | neutral | None | None | None | None | N |
| V/R | 0.2608 | likely_benign | 0.2519 | benign | -0.51 | Destabilizing | 0.716 | D | 0.658 | neutral | None | None | None | None | N |
| V/S | 0.102 | likely_benign | 0.1096 | benign | -1.362 | Destabilizing | 0.004 | N | 0.507 | neutral | None | None | None | None | N |
| V/T | 0.0807 | likely_benign | 0.0914 | benign | -1.229 | Destabilizing | 0.001 | N | 0.33 | neutral | None | None | None | None | N |
| V/W | 0.7495 | likely_pathogenic | 0.7921 | pathogenic | -0.956 | Destabilizing | 0.983 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/Y | 0.4517 | ambiguous | 0.4725 | ambiguous | -0.649 | Destabilizing | 0.836 | D | 0.615 | 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.