Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3253 | 9982;9983;9984 | chr2:178764758;178764757;178764756 | chr2:179629485;179629484;179629483 |
| N2AB | 3253 | 9982;9983;9984 | chr2:178764758;178764757;178764756 | chr2:179629485;179629484;179629483 |
| N2A | 3253 | 9982;9983;9984 | chr2:178764758;178764757;178764756 | chr2:179629485;179629484;179629483 |
| N2B | 3207 | 9844;9845;9846 | chr2:178764758;178764757;178764756 | chr2:179629485;179629484;179629483 |
| Novex-1 | 3207 | 9844;9845;9846 | chr2:178764758;178764757;178764756 | chr2:179629485;179629484;179629483 |
| Novex-2 | 3207 | 9844;9845;9846 | chr2:178764758;178764757;178764756 | chr2:179629485;179629484;179629483 |
| Novex-3 | 3253 | 9982;9983;9984 | chr2:178764758;178764757;178764756 | chr2:179629485;179629484;179629483 |
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 | None | None | 1.0 | D | 0.865 | 0.877 | 0.913288574779 | gnomAD-4.0.0 | 1.59099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85682E-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 | 0.7394 | likely_pathogenic | 0.8141 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.704943519 | None | None | N |
| G/C | 0.9183 | likely_pathogenic | 0.9463 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.770063148 | None | None | N |
| G/D | 0.9416 | likely_pathogenic | 0.9614 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.652008864 | None | None | N |
| G/E | 0.9257 | likely_pathogenic | 0.9517 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| G/F | 0.9876 | likely_pathogenic | 0.991 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/H | 0.9574 | likely_pathogenic | 0.974 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/I | 0.9889 | likely_pathogenic | 0.993 | pathogenic | -0.321 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/K | 0.9509 | likely_pathogenic | 0.9687 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/L | 0.9658 | likely_pathogenic | 0.9771 | pathogenic | -0.321 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/M | 0.9788 | likely_pathogenic | 0.9868 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/N | 0.9085 | likely_pathogenic | 0.9389 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/P | 0.9978 | likely_pathogenic | 0.9985 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/Q | 0.8957 | likely_pathogenic | 0.9302 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/R | 0.8628 | likely_pathogenic | 0.9059 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.734699187 | None | None | N |
| G/S | 0.5108 | ambiguous | 0.6368 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.635418212 | None | None | N |
| G/T | 0.921 | likely_pathogenic | 0.9509 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/V | 0.9709 | likely_pathogenic | 0.9824 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.734367456 | None | None | N |
| G/W | 0.9636 | likely_pathogenic | 0.9751 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/Y | 0.981 | likely_pathogenic | 0.9869 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.879 | 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.