Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31665 | 95218;95219;95220 | chr2:178546338;178546337;178546336 | chr2:179411065;179411064;179411063 |
| N2AB | 30024 | 90295;90296;90297 | chr2:178546338;178546337;178546336 | chr2:179411065;179411064;179411063 |
| N2A | 29097 | 87514;87515;87516 | chr2:178546338;178546337;178546336 | chr2:179411065;179411064;179411063 |
| N2B | 22600 | 68023;68024;68025 | chr2:178546338;178546337;178546336 | chr2:179411065;179411064;179411063 |
| Novex-1 | 22725 | 68398;68399;68400 | chr2:178546338;178546337;178546336 | chr2:179411065;179411064;179411063 |
| Novex-2 | 22792 | 68599;68600;68601 | chr2:178546338;178546337;178546336 | chr2:179411065;179411064;179411063 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.963 | N | 0.371 | 0.249 | 0.356484672536 | gnomAD-4.0.0 | 3.18241E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.5457E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | None | None | 0.883 | D | 0.397 | 0.356 | 0.351830644314 | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9947E-07 | 0 | 0 |
| Q/R | None | None | 0.712 | N | 0.282 | 0.17 | 0.229264304666 | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9947E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2645 | likely_benign | 0.2522 | benign | -0.404 | Destabilizing | 0.4 | N | 0.317 | neutral | None | None | None | None | N |
| Q/C | 0.5894 | likely_pathogenic | 0.5521 | ambiguous | 0.073 | Stabilizing | 0.992 | D | 0.427 | neutral | None | None | None | None | N |
| Q/D | 0.5172 | ambiguous | 0.4811 | ambiguous | 0.126 | Stabilizing | 0.766 | D | 0.26 | neutral | None | None | None | None | N |
| Q/E | 0.1165 | likely_benign | 0.1109 | benign | 0.168 | Stabilizing | 0.505 | D | 0.349 | neutral | N | 0.43141247 | None | None | N |
| Q/F | 0.6767 | likely_pathogenic | 0.6422 | pathogenic | -0.302 | Destabilizing | 0.739 | D | 0.466 | neutral | None | None | None | None | N |
| Q/G | 0.4202 | ambiguous | 0.3924 | ambiguous | -0.684 | Destabilizing | 0.766 | D | 0.418 | neutral | None | None | None | None | N |
| Q/H | 0.1911 | likely_benign | 0.1769 | benign | -0.436 | Destabilizing | 0.963 | D | 0.371 | neutral | N | 0.489730054 | None | None | N |
| Q/I | 0.3226 | likely_benign | 0.2939 | benign | 0.272 | Stabilizing | 0.447 | N | 0.435 | neutral | None | None | None | None | N |
| Q/K | 0.1409 | likely_benign | 0.1267 | benign | -0.038 | Destabilizing | 0.334 | N | 0.326 | neutral | N | 0.466370405 | None | None | N |
| Q/L | 0.1343 | likely_benign | 0.1269 | benign | 0.272 | Stabilizing | 0.002 | N | 0.226 | neutral | N | 0.477435548 | None | None | N |
| Q/M | 0.3725 | ambiguous | 0.3504 | ambiguous | 0.453 | Stabilizing | 0.85 | D | 0.375 | neutral | None | None | None | None | N |
| Q/N | 0.3212 | likely_benign | 0.2981 | benign | -0.502 | Destabilizing | 0.766 | D | 0.265 | neutral | None | None | None | None | N |
| Q/P | 0.7917 | likely_pathogenic | 0.7762 | pathogenic | 0.078 | Stabilizing | 0.883 | D | 0.397 | neutral | D | 0.524362703 | None | None | N |
| Q/R | 0.135 | likely_benign | 0.1257 | benign | 0.065 | Stabilizing | 0.712 | D | 0.282 | neutral | N | 0.479435703 | None | None | N |
| Q/S | 0.2567 | likely_benign | 0.2478 | benign | -0.567 | Destabilizing | 0.25 | N | 0.314 | neutral | None | None | None | None | N |
| Q/T | 0.1802 | likely_benign | 0.1681 | benign | -0.339 | Destabilizing | 0.009 | N | 0.161 | neutral | None | None | None | None | N |
| Q/V | 0.2272 | likely_benign | 0.2095 | benign | 0.078 | Stabilizing | 0.25 | N | 0.376 | neutral | None | None | None | None | N |
| Q/W | 0.5946 | likely_pathogenic | 0.5534 | ambiguous | -0.21 | Destabilizing | 0.992 | D | 0.427 | neutral | None | None | None | None | N |
| Q/Y | 0.4377 | ambiguous | 0.4051 | ambiguous | 0.018 | Stabilizing | 0.92 | D | 0.409 | 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.