Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18758 | 56497;56498;56499 | chr2:178599629;178599628;178599627 | chr2:179464356;179464355;179464354 |
| N2AB | 17117 | 51574;51575;51576 | chr2:178599629;178599628;178599627 | chr2:179464356;179464355;179464354 |
| N2A | 16190 | 48793;48794;48795 | chr2:178599629;178599628;178599627 | chr2:179464356;179464355;179464354 |
| N2B | 9693 | 29302;29303;29304 | chr2:178599629;178599628;178599627 | chr2:179464356;179464355;179464354 |
| Novex-1 | 9818 | 29677;29678;29679 | chr2:178599629;178599628;178599627 | chr2:179464356;179464355;179464354 |
| Novex-2 | 9885 | 29878;29879;29880 | chr2:178599629;178599628;178599627 | chr2:179464356;179464355;179464354 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 1.0 | D | 0.779 | 0.872 | 0.647406887873 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/N | rs748163322  |
None | 1.0 | D | 0.78 | 0.744 | 0.584367751947 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9543 | likely_pathogenic | 0.9566 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.625299318 | None | None | N |
| D/C | 0.9756 | likely_pathogenic | 0.9781 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/E | 0.9157 | likely_pathogenic | 0.9182 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.583 | neutral | D | 0.580673702 | None | None | N |
| D/F | 0.9906 | likely_pathogenic | 0.9928 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/G | 0.9622 | likely_pathogenic | 0.962 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.625501122 | None | None | N |
| D/H | 0.8793 | likely_pathogenic | 0.8723 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.556053531 | None | None | N |
| D/I | 0.989 | likely_pathogenic | 0.9909 | pathogenic | 0.744 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/K | 0.9874 | likely_pathogenic | 0.9869 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| D/L | 0.9851 | likely_pathogenic | 0.9884 | pathogenic | 0.744 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/M | 0.9935 | likely_pathogenic | 0.9946 | pathogenic | 1.246 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/N | 0.6468 | likely_pathogenic | 0.651 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.577019789 | None | None | N |
| D/P | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | 0.417 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/Q | 0.9757 | likely_pathogenic | 0.974 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/R | 0.9895 | likely_pathogenic | 0.9886 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/S | 0.8558 | likely_pathogenic | 0.857 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/T | 0.9739 | likely_pathogenic | 0.9745 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| D/V | 0.9691 | likely_pathogenic | 0.9724 | pathogenic | 0.417 | Stabilizing | 1.0 | D | 0.825 | deleterious | D | 0.641924091 | None | None | N |
| D/W | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | 0.102 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/Y | 0.94 | likely_pathogenic | 0.9446 | pathogenic | 0.253 | Stabilizing | 1.0 | D | 0.841 | deleterious | D | 0.616184176 | 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.