Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27533 | 82822;82823;82824 | chr2:178563535;178563534;178563533 | chr2:179428262;179428261;179428260 |
| N2AB | 25892 | 77899;77900;77901 | chr2:178563535;178563534;178563533 | chr2:179428262;179428261;179428260 |
| N2A | 24965 | 75118;75119;75120 | chr2:178563535;178563534;178563533 | chr2:179428262;179428261;179428260 |
| N2B | 18468 | 55627;55628;55629 | chr2:178563535;178563534;178563533 | chr2:179428262;179428261;179428260 |
| Novex-1 | 18593 | 56002;56003;56004 | chr2:178563535;178563534;178563533 | chr2:179428262;179428261;179428260 |
| Novex-2 | 18660 | 56203;56204;56205 | chr2:178563535;178563534;178563533 | chr2:179428262;179428261;179428260 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs1704471479  |
None | 1.0 | N | 0.749 | 0.463 | 0.342631996419 | gnomAD-4.0.0 | 4.1053E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39691E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3121 | likely_benign | 0.2714 | benign | -0.193 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.517771965 | None | None | N |
| G/C | 0.3916 | ambiguous | 0.3849 | ambiguous | -0.829 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.536979084 | None | None | N |
| G/D | 0.6207 | likely_pathogenic | 0.641 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.521519107 | None | None | N |
| G/E | 0.7262 | likely_pathogenic | 0.7342 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/F | 0.8713 | likely_pathogenic | 0.8727 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/H | 0.6463 | likely_pathogenic | 0.6596 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/I | 0.8255 | likely_pathogenic | 0.8087 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/K | 0.8243 | likely_pathogenic | 0.8374 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/L | 0.782 | likely_pathogenic | 0.7707 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/M | 0.7999 | likely_pathogenic | 0.7805 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/N | 0.3987 | ambiguous | 0.417 | ambiguous | -0.254 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/P | 0.9714 | likely_pathogenic | 0.9663 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/Q | 0.6702 | likely_pathogenic | 0.6747 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/R | 0.6838 | likely_pathogenic | 0.7012 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.489614852 | None | None | N |
| G/S | 0.1533 | likely_benign | 0.1508 | benign | -0.45 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.48276477 | None | None | N |
| G/T | 0.4281 | ambiguous | 0.396 | ambiguous | -0.524 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/V | 0.6799 | likely_pathogenic | 0.6511 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.548246484 | None | None | N |
| G/W | 0.7748 | likely_pathogenic | 0.7852 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/Y | 0.7646 | likely_pathogenic | 0.769 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.743 | 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.