Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5451 | 16576;16577;16578 | chr2:178732710;178732709;178732708 | chr2:179597437;179597436;179597435 |
| N2AB | 5134 | 15625;15626;15627 | chr2:178732710;178732709;178732708 | chr2:179597437;179597436;179597435 |
| N2A | 4207 | 12844;12845;12846 | chr2:178732710;178732709;178732708 | chr2:179597437;179597436;179597435 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.004 | N | 0.179 | 0.445 | 0.378847511475 | gnomAD-4.0.0 | 4.87252E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.36383E-06 | 0 | 0 |
| S/G | rs760722200  |
-0.591 | 0.183 | N | 0.207 | 0.341 | 0.227934060464 | gnomAD-2.1.1 | 1.94E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.18E-05 | 0 |
| S/G | rs760722200 |
-0.591 | 0.183 | N | 0.207 | 0.341 | 0.227934060464 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| S/G | rs760722200 |
-0.591 | 0.183 | N | 0.207 | 0.341 | 0.227934060464 | gnomAD-4.0.0 | 2.70654E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.68805E-04 | 3.59596E-05 | 0 | 0 |
| S/N | rs1365352148 |
0.021 | 0.351 | D | 0.207 | 0.161 | 0.223847106136 | gnomAD-2.1.1 | 4.42E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.6E-06 | 0 |
| S/N | rs1365352148 |
0.021 | 0.351 | D | 0.207 | 0.161 | 0.223847106136 | gnomAD-4.0.0 | 6.96205E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.21942E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0817 | likely_benign | 0.0828 | benign | -0.393 | Destabilizing | 0.004 | N | 0.104 | neutral | None | None | None | None | N |
| S/C | 0.1096 | likely_benign | 0.1045 | benign | -0.453 | Destabilizing | 0.004 | N | 0.179 | neutral | N | 0.507484022 | None | None | N |
| S/D | 0.317 | likely_benign | 0.3456 | ambiguous | 0.326 | Stabilizing | 0.418 | N | 0.191 | neutral | None | None | None | None | N |
| S/E | 0.3796 | ambiguous | 0.4188 | ambiguous | 0.348 | Stabilizing | 0.418 | N | 0.199 | neutral | None | None | None | None | N |
| S/F | 0.1096 | likely_benign | 0.1149 | benign | -0.788 | Destabilizing | 0.836 | D | 0.356 | neutral | None | None | None | None | N |
| S/G | 0.1094 | likely_benign | 0.1062 | benign | -0.61 | Destabilizing | 0.183 | N | 0.207 | neutral | N | 0.506977043 | None | None | N |
| S/H | 0.2037 | likely_benign | 0.2171 | benign | -0.852 | Destabilizing | 0.005 | N | 0.187 | neutral | None | None | None | None | N |
| S/I | 0.1112 | likely_benign | 0.1133 | benign | 0.072 | Stabilizing | 0.213 | N | 0.271 | neutral | N | 0.493240881 | None | None | N |
| S/K | 0.4021 | ambiguous | 0.443 | ambiguous | -0.147 | Destabilizing | 0.418 | N | 0.193 | neutral | None | None | None | None | N |
| S/L | 0.0875 | likely_benign | 0.0905 | benign | 0.072 | Stabilizing | 0.129 | N | 0.257 | neutral | None | None | None | None | N |
| S/M | 0.1885 | likely_benign | 0.1849 | benign | -0.146 | Destabilizing | 0.836 | D | 0.301 | neutral | None | None | None | None | N |
| S/N | 0.1355 | likely_benign | 0.1307 | benign | -0.319 | Destabilizing | 0.351 | N | 0.207 | neutral | D | 0.535059699 | None | None | N |
| S/P | 0.8284 | likely_pathogenic | 0.8804 | pathogenic | -0.05 | Destabilizing | 0.593 | D | 0.376 | neutral | None | None | None | None | N |
| S/Q | 0.3149 | likely_benign | 0.3425 | ambiguous | -0.308 | Destabilizing | 0.716 | D | 0.327 | neutral | None | None | None | None | N |
| S/R | 0.2759 | likely_benign | 0.3007 | benign | -0.113 | Destabilizing | 0.655 | D | 0.375 | neutral | N | 0.513721635 | None | None | N |
| S/T | 0.0743 | likely_benign | 0.0729 | benign | -0.309 | Destabilizing | 0.007 | N | 0.104 | neutral | N | 0.510297328 | None | None | N |
| S/V | 0.1126 | likely_benign | 0.1147 | benign | -0.05 | Destabilizing | 0.004 | N | 0.231 | neutral | None | None | None | None | N |
| S/W | 0.2493 | likely_benign | 0.2825 | benign | -0.877 | Destabilizing | 0.983 | D | 0.367 | neutral | None | None | None | None | N |
| S/Y | 0.1207 | likely_benign | 0.1311 | benign | -0.498 | Destabilizing | 0.716 | D | 0.373 | 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.