Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21098 | 63517;63518;63519 | chr2:178588115;178588114;178588113 | chr2:179452842;179452841;179452840 |
| N2AB | 19457 | 58594;58595;58596 | chr2:178588115;178588114;178588113 | chr2:179452842;179452841;179452840 |
| N2A | 18530 | 55813;55814;55815 | chr2:178588115;178588114;178588113 | chr2:179452842;179452841;179452840 |
| N2B | 12033 | 36322;36323;36324 | chr2:178588115;178588114;178588113 | chr2:179452842;179452841;179452840 |
| Novex-1 | 12158 | 36697;36698;36699 | chr2:178588115;178588114;178588113 | chr2:179452842;179452841;179452840 |
| Novex-2 | 12225 | 36898;36899;36900 | chr2:178588115;178588114;178588113 | chr2:179452842;179452841;179452840 |
| 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/R | None | None | 0.999 | N | 0.865 | 0.387 | 0.577962725263 | gnomAD-4.0.0 | 1.59318E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86159E-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 | 0.647 | likely_pathogenic | 0.6761 | pathogenic | -0.725 | Destabilizing | 0.996 | D | 0.63 | neutral | N | 0.471384195 | None | None | N |
| G/C | 0.8663 | likely_pathogenic | 0.8769 | pathogenic | -0.861 | Destabilizing | 0.844 | D | 0.782 | deleterious | None | None | None | None | N |
| G/D | 0.9794 | likely_pathogenic | 0.98 | pathogenic | -1.638 | Destabilizing | 0.998 | D | 0.773 | deleterious | None | None | None | None | N |
| G/E | 0.9836 | likely_pathogenic | 0.9858 | pathogenic | -1.58 | Destabilizing | 0.999 | D | 0.835 | deleterious | N | 0.46996539 | None | None | N |
| G/F | 0.991 | likely_pathogenic | 0.9922 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/H | 0.9857 | likely_pathogenic | 0.9865 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/I | 0.9899 | likely_pathogenic | 0.99 | pathogenic | -0.032 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/K | 0.9934 | likely_pathogenic | 0.9938 | pathogenic | -1.195 | Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | None | N |
| G/L | 0.9875 | likely_pathogenic | 0.9889 | pathogenic | -0.032 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| G/M | 0.9916 | likely_pathogenic | 0.9931 | pathogenic | -0.156 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/N | 0.9698 | likely_pathogenic | 0.9718 | pathogenic | -1.134 | Destabilizing | 0.91 | D | 0.446 | neutral | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| G/Q | 0.9772 | likely_pathogenic | 0.9792 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/R | 0.9717 | likely_pathogenic | 0.9735 | pathogenic | -1.057 | Destabilizing | 0.999 | D | 0.865 | deleterious | N | 0.477220318 | None | None | N |
| G/S | 0.5231 | ambiguous | 0.5533 | ambiguous | -1.422 | Destabilizing | 0.997 | D | 0.657 | neutral | None | None | None | None | N |
| G/T | 0.9273 | likely_pathogenic | 0.9287 | pathogenic | -1.282 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| G/V | 0.9791 | likely_pathogenic | 0.9797 | pathogenic | -0.222 | Destabilizing | 0.999 | D | 0.837 | deleterious | N | 0.510012241 | None | None | N |
| G/W | 0.9815 | likely_pathogenic | 0.9816 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/Y | 0.9835 | likely_pathogenic | 0.983 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.871 | 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.