Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7716 | 23371;23372;23373 | chr2:178720616;178720615;178720614 | chr2:179585343;179585342;179585341 |
| N2AB | 7399 | 22420;22421;22422 | chr2:178720616;178720615;178720614 | chr2:179585343;179585342;179585341 |
| N2A | 6472 | 19639;19640;19641 | chr2:178720616;178720615;178720614 | chr2:179585343;179585342;179585341 |
| 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 | rs751284978  |
None | 0.734 | D | 0.689 | 0.588 | 0.439870908748 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs751284978 |
None | 0.734 | D | 0.689 | 0.588 | 0.439870908748 | gnomAD-4.0.0 | 5.58747E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63536E-06 | 0 | 0 |
| G/C | rs2154300766 |
None | 0.998 | D | 0.771 | 0.79 | 0.916960796233 | gnomAD-4.0.0 | 1.59916E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86719E-06 | 0 | 0 |
| G/D | None | -0.464 | 0.041 | D | 0.573 | 0.544 | 0.358340041657 | gnomAD-2.1.1 | 2.17E-05 | None | None | None | None | I | None | 1.24554E-04 | 8.6E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | None | -0.464 | 0.041 | D | 0.573 | 0.544 | 0.358340041657 | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | I | None | 2.89659E-04 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | None | -0.464 | 0.041 | D | 0.573 | 0.544 | 0.358340041657 | gnomAD-4.0.0 | 2.17306E-05 | None | None | None | None | I | None | 3.34995E-04 | 1.00762E-04 | None | 0 | 0 | None | 0 | 0 | 2.5451E-06 | 0 | 1.60539E-05 |
| G/V | rs751284978 |
-0.237 | 0.991 | D | 0.775 | 0.703 | None | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.59E-05 | 0 |
| G/V | rs751284978 |
-0.237 | 0.991 | D | 0.775 | 0.703 | None | gnomAD-4.0.0 | 7.54165E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.90341E-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 | 0.4118 | ambiguous | 0.4366 | ambiguous | -0.535 | Destabilizing | 0.734 | D | 0.689 | prob.neutral | D | 0.648667585 | None | None | I |
| G/C | 0.7073 | likely_pathogenic | 0.6868 | pathogenic | -0.963 | Destabilizing | 0.998 | D | 0.771 | deleterious | D | 0.665292359 | None | None | I |
| G/D | 0.4273 | ambiguous | 0.479 | ambiguous | -0.728 | Destabilizing | 0.041 | N | 0.573 | neutral | D | 0.591333634 | None | None | I |
| G/E | 0.6058 | likely_pathogenic | 0.6457 | pathogenic | -0.864 | Destabilizing | 0.973 | D | 0.755 | deleterious | None | None | None | None | I |
| G/F | 0.8804 | likely_pathogenic | 0.879 | pathogenic | -1.144 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | I |
| G/H | 0.7759 | likely_pathogenic | 0.7883 | pathogenic | -0.847 | Destabilizing | 0.998 | D | 0.781 | deleterious | None | None | None | None | I |
| G/I | 0.8515 | likely_pathogenic | 0.8472 | pathogenic | -0.493 | Destabilizing | 0.998 | D | 0.794 | deleterious | None | None | None | None | I |
| G/K | 0.9023 | likely_pathogenic | 0.9031 | pathogenic | -0.99 | Destabilizing | 0.987 | D | 0.773 | deleterious | None | None | None | None | I |
| G/L | 0.8405 | likely_pathogenic | 0.849 | pathogenic | -0.493 | Destabilizing | 0.993 | D | 0.767 | deleterious | None | None | None | None | I |
| G/M | 0.8588 | likely_pathogenic | 0.8652 | pathogenic | -0.404 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | I |
| G/N | 0.3905 | ambiguous | 0.4301 | ambiguous | -0.641 | Destabilizing | 0.973 | D | 0.765 | deleterious | None | None | None | None | I |
| G/P | 0.986 | likely_pathogenic | 0.9873 | pathogenic | -0.47 | Destabilizing | 0.982 | D | 0.78 | deleterious | None | None | None | None | I |
| G/Q | 0.75 | likely_pathogenic | 0.7694 | pathogenic | -0.92 | Destabilizing | 0.987 | D | 0.788 | deleterious | None | None | None | None | I |
| G/R | 0.8409 | likely_pathogenic | 0.8375 | pathogenic | -0.544 | Destabilizing | 0.982 | D | 0.785 | deleterious | D | 0.627510241 | None | None | I |
| G/S | 0.2286 | likely_benign | 0.2435 | benign | -0.862 | Destabilizing | 0.829 | D | 0.767 | deleterious | D | 0.600175533 | None | None | I |
| G/T | 0.528 | ambiguous | 0.5495 | ambiguous | -0.92 | Destabilizing | 0.987 | D | 0.765 | deleterious | None | None | None | None | I |
| G/V | 0.7255 | likely_pathogenic | 0.7246 | pathogenic | -0.47 | Destabilizing | 0.991 | D | 0.775 | deleterious | D | 0.649071193 | None | None | I |
| G/W | 0.8348 | likely_pathogenic | 0.8304 | pathogenic | -1.322 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | I |
| G/Y | 0.7746 | likely_pathogenic | 0.7776 | pathogenic | -0.963 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | I |
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.