Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21457 | 64594;64595;64596 | chr2:178586532;178586531;178586530 | chr2:179451259;179451258;179451257 |
| N2AB | 19816 | 59671;59672;59673 | chr2:178586532;178586531;178586530 | chr2:179451259;179451258;179451257 |
| N2A | 18889 | 56890;56891;56892 | chr2:178586532;178586531;178586530 | chr2:179451259;179451258;179451257 |
| N2B | 12392 | 37399;37400;37401 | chr2:178586532;178586531;178586530 | chr2:179451259;179451258;179451257 |
| Novex-1 | 12517 | 37774;37775;37776 | chr2:178586532;178586531;178586530 | chr2:179451259;179451258;179451257 |
| Novex-2 | 12584 | 37975;37976;37977 | chr2:178586532;178586531;178586530 | chr2:179451259;179451258;179451257 |
| 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/E | rs2049025749  |
None | 1.0 | N | 0.851 | 0.383 | 0.409124616982 | 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 |
| G/R | None | None | 1.0 | N | 0.806 | 0.39 | 0.53099781502 | gnomAD-4.0.0 | 1.59274E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86157E-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 | 0.2058 | likely_benign | 0.151 | benign | -0.328 | Destabilizing | 0.999 | D | 0.727 | deleterious | N | 0.481296998 | None | None | N |
| G/C | 0.4422 | ambiguous | 0.3159 | benign | -0.89 | Destabilizing | 1.0 | D | 0.72 | deleterious | None | None | None | None | N |
| G/D | 0.392 | ambiguous | 0.2768 | benign | -0.618 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/E | 0.3946 | ambiguous | 0.2745 | benign | -0.742 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.407858032 | None | None | N |
| G/F | 0.7721 | likely_pathogenic | 0.669 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/H | 0.6891 | likely_pathogenic | 0.5472 | ambiguous | -0.48 | Destabilizing | 1.0 | D | 0.703 | prob.delet. | None | None | None | None | N |
| G/I | 0.468 | ambiguous | 0.3281 | benign | -0.36 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/K | 0.728 | likely_pathogenic | 0.5534 | ambiguous | -0.899 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/L | 0.6639 | likely_pathogenic | 0.5292 | ambiguous | -0.36 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/M | 0.6339 | likely_pathogenic | 0.4995 | ambiguous | -0.612 | Destabilizing | 1.0 | D | 0.723 | deleterious | None | None | None | None | N |
| G/N | 0.4165 | ambiguous | 0.3173 | benign | -0.613 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/P | 0.9047 | likely_pathogenic | 0.8489 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Q | 0.6079 | likely_pathogenic | 0.478 | ambiguous | -0.837 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/R | 0.69 | likely_pathogenic | 0.5273 | ambiguous | -0.469 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.491417991 | None | None | N |
| G/S | 0.1917 | likely_benign | 0.1519 | benign | -0.763 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| G/T | 0.2397 | likely_benign | 0.1731 | benign | -0.811 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/V | 0.3115 | likely_benign | 0.2124 | benign | -0.316 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.460748368 | None | None | N |
| G/W | 0.7209 | likely_pathogenic | 0.5968 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/Y | 0.6708 | likely_pathogenic | 0.5355 | ambiguous | -0.719 | Destabilizing | 1.0 | D | 0.745 | 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.