Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5100 | 15523;15524;15525 | chr2:178734526;178734525;178734524 | chr2:179599253;179599252;179599251 |
| N2AB | 4783 | 14572;14573;14574 | chr2:178734526;178734525;178734524 | chr2:179599253;179599252;179599251 |
| N2A | 3856 | 11791;11792;11793 | chr2:178734526;178734525;178734524 | chr2:179599253;179599252;179599251 |
| 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/C | rs2081094538  |
None | 1.0 | D | 0.717 | 0.818 | 0.893786415199 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs773928522 |
0.333 | 1.0 | D | 0.815 | 0.825 | 0.635064254492 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/D | rs773928522 |
0.333 | 1.0 | D | 0.815 | 0.825 | 0.635064254492 | gnomAD-4.0.0 | 6.84813E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00087E-07 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.773 | 0.879 | 0.934545104794 | gnomAD-4.0.0 | 1.36963E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.71016E-05 | 1.16252E-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 | 0.6476 | likely_pathogenic | 0.75 | pathogenic | -0.167 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.642477329 | None | None | I |
| G/C | 0.9501 | likely_pathogenic | 0.9738 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.752713845 | None | None | I |
| G/D | 0.9897 | likely_pathogenic | 0.9922 | pathogenic | -0.06 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.744063967 | None | None | I |
| G/E | 0.9914 | likely_pathogenic | 0.9934 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/F | 0.9945 | likely_pathogenic | 0.9969 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/H | 0.9958 | likely_pathogenic | 0.9974 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/I | 0.9857 | likely_pathogenic | 0.9916 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| G/K | 0.996 | likely_pathogenic | 0.9967 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/L | 0.9877 | likely_pathogenic | 0.9931 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/M | 0.9926 | likely_pathogenic | 0.9962 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/N | 0.9909 | likely_pathogenic | 0.9937 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/P | 0.9953 | likely_pathogenic | 0.9968 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/Q | 0.9914 | likely_pathogenic | 0.9939 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/R | 0.985 | likely_pathogenic | 0.9873 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.711153829 | None | None | I |
| G/S | 0.7755 | likely_pathogenic | 0.8405 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.644121145 | None | None | I |
| G/T | 0.958 | likely_pathogenic | 0.9734 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/V | 0.9628 | likely_pathogenic | 0.9777 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.799734832 | None | None | I |
| G/W | 0.9922 | likely_pathogenic | 0.9953 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9942 | likely_pathogenic | 0.9969 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.749 | 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.