Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28424 | 85495;85496;85497 | chr2:178560862;178560861;178560860 | chr2:179425589;179425588;179425587 |
| N2AB | 26783 | 80572;80573;80574 | chr2:178560862;178560861;178560860 | chr2:179425589;179425588;179425587 |
| N2A | 25856 | 77791;77792;77793 | chr2:178560862;178560861;178560860 | chr2:179425589;179425588;179425587 |
| N2B | 19359 | 58300;58301;58302 | chr2:178560862;178560861;178560860 | chr2:179425589;179425588;179425587 |
| Novex-1 | 19484 | 58675;58676;58677 | chr2:178560862;178560861;178560860 | chr2:179425589;179425588;179425587 |
| Novex-2 | 19551 | 58876;58877;58878 | chr2:178560862;178560861;178560860 | chr2:179425589;179425588;179425587 |
| 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 | rs879049486  |
None | 1.0 | D | 0.777 | 0.887 | None | gnomAD-4.0.0 | 4.78984E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29616E-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 | 0.9772 | likely_pathogenic | 0.9684 | pathogenic | -0.321 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.651533923 | None | None | N |
| D/C | 0.9889 | likely_pathogenic | 0.9851 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/E | 0.9044 | likely_pathogenic | 0.872 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.599 | neutral | D | 0.634303737 | None | None | N |
| D/F | 0.9925 | likely_pathogenic | 0.9903 | pathogenic | 0.241 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/G | 0.9711 | likely_pathogenic | 0.9557 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.651735728 | None | None | N |
| D/H | 0.9121 | likely_pathogenic | 0.9013 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.592271216 | None | None | N |
| D/I | 0.9927 | likely_pathogenic | 0.9901 | pathogenic | 0.802 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/K | 0.9895 | likely_pathogenic | 0.9867 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| D/L | 0.9905 | likely_pathogenic | 0.9876 | pathogenic | 0.802 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/M | 0.9952 | likely_pathogenic | 0.9933 | pathogenic | 1.281 | Stabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| D/N | 0.7675 | likely_pathogenic | 0.6878 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.617648603 | None | None | N |
| D/P | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | 0.455 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| D/Q | 0.9788 | likely_pathogenic | 0.9715 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/R | 0.992 | likely_pathogenic | 0.9903 | pathogenic | -0.178 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/S | 0.9307 | likely_pathogenic | 0.906 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| D/T | 0.9866 | likely_pathogenic | 0.9818 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/V | 0.9782 | likely_pathogenic | 0.9708 | pathogenic | 0.455 | Stabilizing | 1.0 | D | 0.822 | deleterious | D | 0.652139336 | None | None | N |
| D/W | 0.9979 | likely_pathogenic | 0.9975 | pathogenic | 0.39 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/Y | 0.925 | likely_pathogenic | 0.9102 | pathogenic | 0.495 | Stabilizing | 1.0 | D | 0.83 | deleterious | D | 0.651937532 | 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.