Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26108 | 78547;78548;78549 | chr2:178567810;178567809;178567808 | chr2:179432537;179432536;179432535 |
| N2AB | 24467 | 73624;73625;73626 | chr2:178567810;178567809;178567808 | chr2:179432537;179432536;179432535 |
| N2A | 23540 | 70843;70844;70845 | chr2:178567810;178567809;178567808 | chr2:179432537;179432536;179432535 |
| N2B | 17043 | 51352;51353;51354 | chr2:178567810;178567809;178567808 | chr2:179432537;179432536;179432535 |
| Novex-1 | 17168 | 51727;51728;51729 | chr2:178567810;178567809;178567808 | chr2:179432537;179432536;179432535 |
| Novex-2 | 17235 | 51928;51929;51930 | chr2:178567810;178567809;178567808 | chr2:179432537;179432536;179432535 |
| 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 | 0.794 | N | 0.53 | 0.211 | 0.168933306366 | gnomAD-4.0.0 | 4.8013E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25002E-06 | 0 | 0 |
| Q/R | rs370963021  |
-0.318 | 0.001 | N | 0.207 | 0.131 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| Q/R | rs370963021 |
-0.318 | 0.001 | N | 0.207 | 0.131 | None | 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 |
| Q/R | rs370963021 |
-0.318 | 0.001 | N | 0.207 | 0.131 | None | gnomAD-4.0.0 | 3.84269E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.00166E-05 | 0 | 4.80415E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3201 | likely_benign | 0.2799 | benign | -0.85 | Destabilizing | 0.129 | N | 0.414 | neutral | None | None | None | None | N |
| Q/C | 0.5304 | ambiguous | 0.4801 | ambiguous | -0.227 | Destabilizing | 0.983 | D | 0.638 | neutral | None | None | None | None | N |
| Q/D | 0.7961 | likely_pathogenic | 0.6929 | pathogenic | -1.015 | Destabilizing | 0.418 | N | 0.394 | neutral | None | None | None | None | N |
| Q/E | 0.1489 | likely_benign | 0.1206 | benign | -0.84 | Destabilizing | 0.101 | N | 0.354 | neutral | N | 0.459027853 | None | None | N |
| Q/F | 0.731 | likely_pathogenic | 0.674 | pathogenic | -0.277 | Destabilizing | 0.94 | D | 0.609 | neutral | None | None | None | None | N |
| Q/G | 0.493 | ambiguous | 0.4312 | ambiguous | -1.27 | Destabilizing | 0.129 | N | 0.468 | neutral | None | None | None | None | N |
| Q/H | 0.2714 | likely_benign | 0.2285 | benign | -0.97 | Destabilizing | 0.794 | D | 0.53 | neutral | N | 0.510592824 | None | None | N |
| Q/I | 0.4003 | ambiguous | 0.3493 | ambiguous | 0.263 | Stabilizing | 0.836 | D | 0.631 | neutral | None | None | None | None | N |
| Q/K | 0.1045 | likely_benign | 0.1022 | benign | -0.495 | Destabilizing | 0.001 | N | 0.216 | neutral | N | 0.457739774 | None | None | N |
| Q/L | 0.1816 | likely_benign | 0.1509 | benign | 0.263 | Stabilizing | 0.351 | N | 0.513 | neutral | N | 0.468584081 | None | None | N |
| Q/M | 0.3659 | ambiguous | 0.3405 | ambiguous | 0.603 | Stabilizing | 0.94 | D | 0.529 | neutral | None | None | None | None | N |
| Q/N | 0.5249 | ambiguous | 0.4492 | ambiguous | -1.112 | Destabilizing | 0.418 | N | 0.392 | neutral | None | None | None | None | N |
| Q/P | 0.9552 | likely_pathogenic | 0.9159 | pathogenic | -0.078 | Destabilizing | 0.523 | D | 0.543 | neutral | N | 0.513301741 | None | None | N |
| Q/R | 0.1128 | likely_benign | 0.1026 | benign | -0.513 | Destabilizing | 0.001 | N | 0.207 | neutral | N | 0.471053001 | None | None | N |
| Q/S | 0.341 | ambiguous | 0.3074 | benign | -1.31 | Destabilizing | 0.004 | N | 0.21 | neutral | None | None | None | None | N |
| Q/T | 0.2432 | likely_benign | 0.2223 | benign | -0.937 | Destabilizing | 0.129 | N | 0.425 | neutral | None | None | None | None | N |
| Q/V | 0.2887 | likely_benign | 0.2497 | benign | -0.078 | Destabilizing | 0.418 | N | 0.525 | neutral | None | None | None | None | N |
| Q/W | 0.6892 | likely_pathogenic | 0.5919 | pathogenic | -0.18 | Destabilizing | 0.983 | D | 0.649 | neutral | None | None | None | None | N |
| Q/Y | 0.5549 | ambiguous | 0.4748 | ambiguous | 0.075 | Stabilizing | 0.94 | D | 0.594 | 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.