Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8121 | 24586;24587;24588 | chr2:178718839;178718838;178718837 | chr2:179583566;179583565;179583564 |
| N2AB | 7804 | 23635;23636;23637 | chr2:178718839;178718838;178718837 | chr2:179583566;179583565;179583564 |
| N2A | 6877 | 20854;20855;20856 | chr2:178718839;178718838;178718837 | chr2:179583566;179583565;179583564 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | rs1394976705  |
0.058 | 0.955 | N | 0.477 | 0.263 | 0.148003135375 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| G/A | rs1394976705 |
0.058 | 0.955 | N | 0.477 | 0.263 | 0.148003135375 | gnomAD-4.0.0 | 6.84222E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87301E-05 | 0 | 0 | 0 | 0 |
| G/E | None | None | 0.987 | N | 0.624 | 0.31 | 0.327686398923 | gnomAD-4.0.0 | 6.84222E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99486E-07 | 0 | 0 |
| G/R | rs778894201 |
-0.021 | 0.997 | N | 0.723 | 0.392 | 0.512707719942 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs778894201 |
-0.021 | 0.997 | N | 0.723 | 0.392 | 0.512707719942 | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 | 0.1526 | likely_benign | 0.1509 | benign | -0.241 | Destabilizing | 0.955 | D | 0.477 | neutral | N | 0.471887493 | None | None | N |
| G/C | 0.3343 | likely_benign | 0.3212 | benign | -0.799 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/D | 0.1646 | likely_benign | 0.1738 | benign | -0.522 | Destabilizing | 0.289 | N | 0.37 | neutral | None | None | None | None | N |
| G/E | 0.1888 | likely_benign | 0.197 | benign | -0.688 | Destabilizing | 0.987 | D | 0.624 | neutral | N | 0.467012421 | None | None | N |
| G/F | 0.5836 | likely_pathogenic | 0.598 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/H | 0.3489 | ambiguous | 0.3559 | ambiguous | -0.492 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/I | 0.429 | ambiguous | 0.4382 | ambiguous | -0.418 | Destabilizing | 0.998 | D | 0.749 | deleterious | None | None | None | None | N |
| G/K | 0.2981 | likely_benign | 0.3044 | benign | -0.757 | Destabilizing | 0.995 | D | 0.665 | neutral | None | None | None | None | N |
| G/L | 0.4055 | ambiguous | 0.407 | ambiguous | -0.418 | Destabilizing | 0.998 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/M | 0.4818 | ambiguous | 0.4759 | ambiguous | -0.496 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/N | 0.2504 | likely_benign | 0.2541 | benign | -0.353 | Destabilizing | 0.99 | D | 0.671 | neutral | None | None | None | None | N |
| G/P | 0.8755 | likely_pathogenic | 0.8702 | pathogenic | -0.328 | Destabilizing | 0.998 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/Q | 0.2777 | likely_benign | 0.2753 | benign | -0.637 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/R | 0.2039 | likely_benign | 0.21 | benign | -0.325 | Destabilizing | 0.997 | D | 0.723 | prob.delet. | N | 0.492967489 | None | None | N |
| G/S | 0.0911 | likely_benign | 0.0907 | benign | -0.484 | Destabilizing | 0.835 | D | 0.37 | neutral | None | None | None | None | N |
| G/T | 0.1595 | likely_benign | 0.1569 | benign | -0.583 | Destabilizing | 0.99 | D | 0.668 | neutral | None | None | None | None | N |
| G/V | 0.2638 | likely_benign | 0.2714 | benign | -0.328 | Destabilizing | 0.997 | D | 0.709 | prob.delet. | N | 0.498500897 | None | None | N |
| G/W | 0.4151 | ambiguous | 0.423 | ambiguous | -1.157 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.516858642 | None | None | N |
| G/Y | 0.484 | ambiguous | 0.4909 | ambiguous | -0.812 | Destabilizing | 1.0 | D | 0.753 | 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.