Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20695 | 62308;62309;62310 | chr2:178589642;178589641;178589640 | chr2:179454369;179454368;179454367 |
| N2AB | 19054 | 57385;57386;57387 | chr2:178589642;178589641;178589640 | chr2:179454369;179454368;179454367 |
| N2A | 18127 | 54604;54605;54606 | chr2:178589642;178589641;178589640 | chr2:179454369;179454368;179454367 |
| N2B | 11630 | 35113;35114;35115 | chr2:178589642;178589641;178589640 | chr2:179454369;179454368;179454367 |
| Novex-1 | 11755 | 35488;35489;35490 | chr2:178589642;178589641;178589640 | chr2:179454369;179454368;179454367 |
| Novex-2 | 11822 | 35689;35690;35691 | chr2:178589642;178589641;178589640 | chr2:179454369;179454368;179454367 |
| 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 | None | None | 1.0 | N | 0.439 | 0.332 | 0.250579442822 | gnomAD-4.0.0 | 6.84338E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99594E-07 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.709 | 0.369 | 0.378847511475 | gnomAD-4.0.0 | 4.79037E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29715E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.986 | likely_pathogenic | 0.9638 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.504578781 | None | None | N |
| D/C | 0.9974 | likely_pathogenic | 0.9918 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| D/E | 0.9786 | likely_pathogenic | 0.9449 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.439 | neutral | N | 0.498956467 | None | None | N |
| D/F | 0.9974 | likely_pathogenic | 0.9938 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| D/G | 0.9839 | likely_pathogenic | 0.961 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.512847668 | None | None | N |
| D/H | 0.9877 | likely_pathogenic | 0.9682 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | D | 0.523443505 | None | None | N |
| D/I | 0.9973 | likely_pathogenic | 0.9909 | pathogenic | 0.126 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/K | 0.9966 | likely_pathogenic | 0.9898 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| D/L | 0.9929 | likely_pathogenic | 0.9829 | pathogenic | 0.126 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/M | 0.9991 | likely_pathogenic | 0.9972 | pathogenic | 0.628 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| D/N | 0.7339 | likely_pathogenic | 0.4933 | ambiguous | -0.766 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.510920898 | None | None | N |
| D/P | 0.9968 | likely_pathogenic | 0.9934 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/Q | 0.9945 | likely_pathogenic | 0.9859 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| D/R | 0.9938 | likely_pathogenic | 0.9858 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| D/S | 0.9362 | likely_pathogenic | 0.8444 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| D/T | 0.9829 | likely_pathogenic | 0.9579 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/V | 0.9912 | likely_pathogenic | 0.9752 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.500223915 | None | None | N |
| D/W | 0.9995 | likely_pathogenic | 0.9986 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| D/Y | 0.98 | likely_pathogenic | 0.9521 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.524203973 | 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.