Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24732 | 74419;74420;74421 | chr2:178571938;178571937;178571936 | chr2:179436665;179436664;179436663 |
| N2AB | 23091 | 69496;69497;69498 | chr2:178571938;178571937;178571936 | chr2:179436665;179436664;179436663 |
| N2A | 22164 | 66715;66716;66717 | chr2:178571938;178571937;178571936 | chr2:179436665;179436664;179436663 |
| N2B | 15667 | 47224;47225;47226 | chr2:178571938;178571937;178571936 | chr2:179436665;179436664;179436663 |
| Novex-1 | 15792 | 47599;47600;47601 | chr2:178571938;178571937;178571936 | chr2:179436665;179436664;179436663 |
| Novex-2 | 15859 | 47800;47801;47802 | chr2:178571938;178571937;178571936 | chr2:179436665;179436664;179436663 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs764541017  |
None | 0.958 | N | 0.422 | 0.2 | 0.177238962908 | gnomAD-4.0.0 | 2.05349E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69892E-06 | 0 | 0 |
| D/G | None | None | 0.958 | N | 0.667 | 0.444 | 0.186928172975 | gnomAD-4.0.0 | 1.5927E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85995E-06 | 0 | 0 |
| D/H | rs754089001 |
-0.519 | 0.999 | N | 0.817 | 0.411 | 0.202086224978 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| D/H | rs754089001 |
-0.519 | 0.999 | N | 0.817 | 0.411 | 0.202086224978 | gnomAD-4.0.0 | 6.8451E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99656E-07 | 0 | 0 |
| D/N | None | -0.455 | 0.988 | N | 0.713 | 0.302 | 0.171388866994 | gnomAD-4.0.0 | 1.36902E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99656E-07 | 1.15961E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2916 | likely_benign | 0.3814 | ambiguous | -0.372 | Destabilizing | 0.919 | D | 0.663 | neutral | N | 0.498729887 | None | None | N |
| D/C | 0.8077 | likely_pathogenic | 0.8607 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/E | 0.2949 | likely_benign | 0.4022 | ambiguous | -0.541 | Destabilizing | 0.958 | D | 0.422 | neutral | N | 0.49678566 | None | None | N |
| D/F | 0.7937 | likely_pathogenic | 0.8544 | pathogenic | -0.218 | Destabilizing | 0.999 | D | 0.866 | deleterious | None | None | None | None | N |
| D/G | 0.3179 | likely_benign | 0.417 | ambiguous | -0.651 | Destabilizing | 0.958 | D | 0.667 | neutral | N | 0.483697871 | None | None | N |
| D/H | 0.4991 | ambiguous | 0.6047 | pathogenic | -0.436 | Destabilizing | 0.999 | D | 0.817 | deleterious | N | 0.463885322 | None | None | N |
| D/I | 0.5212 | ambiguous | 0.6423 | pathogenic | 0.334 | Stabilizing | 0.991 | D | 0.877 | deleterious | None | None | None | None | N |
| D/K | 0.6592 | likely_pathogenic | 0.778 | pathogenic | -0.135 | Destabilizing | 0.991 | D | 0.817 | deleterious | None | None | None | None | N |
| D/L | 0.5901 | likely_pathogenic | 0.6968 | pathogenic | 0.334 | Stabilizing | 0.982 | D | 0.837 | deleterious | None | None | None | None | N |
| D/M | 0.7536 | likely_pathogenic | 0.8394 | pathogenic | 0.625 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/N | 0.1224 | likely_benign | 0.1474 | benign | -0.436 | Destabilizing | 0.988 | D | 0.713 | prob.delet. | N | 0.455131039 | None | None | N |
| D/P | 0.6258 | likely_pathogenic | 0.6931 | pathogenic | 0.123 | Stabilizing | 0.995 | D | 0.84 | deleterious | None | None | None | None | N |
| D/Q | 0.5765 | likely_pathogenic | 0.7088 | pathogenic | -0.357 | Destabilizing | 0.995 | D | 0.797 | deleterious | None | None | None | None | N |
| D/R | 0.733 | likely_pathogenic | 0.8242 | pathogenic | 0.001 | Stabilizing | 0.991 | D | 0.875 | deleterious | None | None | None | None | N |
| D/S | 0.193 | likely_benign | 0.2515 | benign | -0.608 | Destabilizing | 0.938 | D | 0.587 | neutral | None | None | None | None | N |
| D/T | 0.2915 | likely_benign | 0.3939 | ambiguous | -0.393 | Destabilizing | 0.18 | N | 0.337 | neutral | None | None | None | None | N |
| D/V | 0.3258 | likely_benign | 0.4276 | ambiguous | 0.123 | Stabilizing | 0.976 | D | 0.83 | deleterious | N | 0.490283762 | None | None | N |
| D/W | 0.9656 | likely_pathogenic | 0.9774 | pathogenic | -0.098 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/Y | 0.3601 | ambiguous | 0.4398 | ambiguous | -0.001 | Destabilizing | 0.999 | D | 0.87 | deleterious | N | 0.495814645 | 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.