Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16799 | 50620;50621;50622 | chr2:178611914;178611913;178611912 | chr2:179476641;179476640;179476639 |
| N2AB | 15158 | 45697;45698;45699 | chr2:178611914;178611913;178611912 | chr2:179476641;179476640;179476639 |
| N2A | 14231 | 42916;42917;42918 | chr2:178611914;178611913;178611912 | chr2:179476641;179476640;179476639 |
| N2B | 7734 | 23425;23426;23427 | chr2:178611914;178611913;178611912 | chr2:179476641;179476640;179476639 |
| Novex-1 | 7859 | 23800;23801;23802 | chr2:178611914;178611913;178611912 | chr2:179476641;179476640;179476639 |
| Novex-2 | 7926 | 24001;24002;24003 | chr2:178611914;178611913;178611912 | chr2:179476641;179476640;179476639 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs1222977459  |
-1.14 | 1.0 | N | 0.769 | 0.501 | 0.84546926263 | gnomAD-2.1.1 | 6.38E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29702E-04 | 0 |
| V/G | rs1222977459 |
-1.14 | 1.0 | N | 0.769 | 0.501 | 0.84546926263 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/G | rs1222977459 |
-1.14 | 1.0 | N | 0.769 | 0.501 | 0.84546926263 | gnomAD-4.0.0 | 3.04531E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61522E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6576 | likely_pathogenic | 0.6539 | pathogenic | -0.916 | Destabilizing | 0.999 | D | 0.565 | neutral | N | 0.478574812 | None | None | N |
| V/C | 0.9294 | likely_pathogenic | 0.9007 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/D | 0.9019 | likely_pathogenic | 0.8904 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/E | 0.7489 | likely_pathogenic | 0.708 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.482759965 | None | None | N |
| V/F | 0.4858 | ambiguous | 0.4716 | ambiguous | -0.788 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| V/G | 0.63 | likely_pathogenic | 0.6163 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.519091237 | None | None | N |
| V/H | 0.9143 | likely_pathogenic | 0.8948 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| V/I | 0.1055 | likely_benign | 0.1038 | benign | -0.441 | Destabilizing | 0.998 | D | 0.501 | neutral | None | None | None | None | N |
| V/K | 0.8283 | likely_pathogenic | 0.7979 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| V/L | 0.3828 | ambiguous | 0.3923 | ambiguous | -0.441 | Destabilizing | 0.997 | D | 0.547 | neutral | N | 0.471399707 | None | None | N |
| V/M | 0.3726 | ambiguous | 0.3523 | ambiguous | -0.443 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.484327922 | None | None | N |
| V/N | 0.7028 | likely_pathogenic | 0.7017 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/P | 0.9775 | likely_pathogenic | 0.9829 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| V/Q | 0.6894 | likely_pathogenic | 0.6546 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| V/R | 0.8041 | likely_pathogenic | 0.7726 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/S | 0.7039 | likely_pathogenic | 0.7016 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| V/T | 0.5955 | likely_pathogenic | 0.5782 | pathogenic | -0.98 | Destabilizing | 0.999 | D | 0.652 | neutral | None | None | None | None | N |
| V/W | 0.9712 | likely_pathogenic | 0.9658 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| V/Y | 0.877 | likely_pathogenic | 0.8586 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.762 | deleterious | 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.