Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8533 | 25822;25823;25824 | chr2:178717137;178717136;178717135 | chr2:179581864;179581863;179581862 |
| N2AB | 8216 | 24871;24872;24873 | chr2:178717137;178717136;178717135 | chr2:179581864;179581863;179581862 |
| N2A | 7289 | 22090;22091;22092 | chr2:178717137;178717136;178717135 | chr2:179581864;179581863;179581862 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/F | None | None | 0.016 | D | 0.307 | 0.056 | 0.313518423057 | gnomAD-4.0.0 | 1.36878E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79934E-06 | 0 | 0 |
| I/N | None | None | None | N | 0.164 | 0.118 | 0.237489013734 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/V | rs367921306  |
-0.064 | None | N | 0.121 | 0.094 | 0.21279746466 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 3.34336E-04 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/V | rs367921306 |
-0.064 | None | N | 0.121 | 0.094 | 0.21279746466 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 5.79374E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs367921306 |
-0.064 | None | N | 0.121 | 0.094 | 0.21279746466 | 1000 genomes | 3.99361E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| I/V | rs367921306 |
-0.064 | None | N | 0.121 | 0.094 | 0.21279746466 | gnomAD-4.0.0 | 1.23959E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.45251E-04 | None | 0 | 0 | 0 | 4.393E-05 | 8.00512E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0735 | likely_benign | 0.0722 | benign | -0.427 | Destabilizing | None | N | 0.135 | neutral | None | None | None | None | I |
| I/C | 0.4089 | ambiguous | 0.4107 | ambiguous | -0.795 | Destabilizing | 0.132 | N | 0.241 | neutral | None | None | None | None | I |
| I/D | 0.1745 | likely_benign | 0.1761 | benign | -0.274 | Destabilizing | None | N | 0.165 | neutral | None | None | None | None | I |
| I/E | 0.1693 | likely_benign | 0.1752 | benign | -0.377 | Destabilizing | None | N | 0.17 | neutral | None | None | None | None | I |
| I/F | 0.0952 | likely_benign | 0.0963 | benign | -0.643 | Destabilizing | 0.016 | N | 0.307 | neutral | D | 0.525650782 | None | None | I |
| I/G | 0.1587 | likely_benign | 0.1606 | benign | -0.513 | Destabilizing | 0.001 | N | 0.287 | neutral | None | None | None | None | I |
| I/H | 0.1724 | likely_benign | 0.1654 | benign | 0.071 | Stabilizing | None | N | 0.177 | neutral | None | None | None | None | I |
| I/K | 0.1184 | likely_benign | 0.1198 | benign | -0.326 | Destabilizing | None | N | 0.162 | neutral | None | None | None | None | I |
| I/L | 0.077 | likely_benign | 0.0784 | benign | -0.324 | Destabilizing | 0.001 | N | 0.218 | neutral | N | 0.476742114 | None | None | I |
| I/M | 0.0712 | likely_benign | 0.0723 | benign | -0.547 | Destabilizing | 0.039 | N | 0.284 | neutral | N | 0.493693079 | None | None | I |
| I/N | 0.074 | likely_benign | 0.0716 | benign | -0.191 | Destabilizing | None | N | 0.164 | neutral | N | 0.48734311 | None | None | I |
| I/P | 0.205 | likely_benign | 0.207 | benign | -0.331 | Destabilizing | 0.018 | N | 0.305 | neutral | None | None | None | None | I |
| I/Q | 0.1351 | likely_benign | 0.1353 | benign | -0.386 | Destabilizing | 0.009 | N | 0.325 | neutral | None | None | None | None | I |
| I/R | 0.0955 | likely_benign | 0.0937 | benign | 0.148 | Stabilizing | 0.004 | N | 0.341 | neutral | None | None | None | None | I |
| I/S | 0.071 | likely_benign | 0.0689 | benign | -0.559 | Destabilizing | None | N | 0.135 | neutral | N | 0.431985686 | None | None | I |
| I/T | 0.0681 | likely_benign | 0.0653 | benign | -0.563 | Destabilizing | 0.001 | N | 0.293 | neutral | N | 0.464812967 | None | None | I |
| I/V | 0.0571 | likely_benign | 0.0561 | benign | -0.331 | Destabilizing | None | N | 0.121 | neutral | N | 0.443149616 | None | None | I |
| I/W | 0.4914 | ambiguous | 0.4987 | ambiguous | -0.663 | Destabilizing | 0.316 | N | 0.21 | neutral | None | None | None | None | I |
| I/Y | 0.2569 | likely_benign | 0.2539 | benign | -0.422 | Destabilizing | 0.009 | N | 0.369 | 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.