Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28222 | 84889;84890;84891 | chr2:178561468;178561467;178561466 | chr2:179426195;179426194;179426193 |
| N2AB | 26581 | 79966;79967;79968 | chr2:178561468;178561467;178561466 | chr2:179426195;179426194;179426193 |
| N2A | 25654 | 77185;77186;77187 | chr2:178561468;178561467;178561466 | chr2:179426195;179426194;179426193 |
| N2B | 19157 | 57694;57695;57696 | chr2:178561468;178561467;178561466 | chr2:179426195;179426194;179426193 |
| Novex-1 | 19282 | 58069;58070;58071 | chr2:178561468;178561467;178561466 | chr2:179426195;179426194;179426193 |
| Novex-2 | 19349 | 58270;58271;58272 | chr2:178561468;178561467;178561466 | chr2:179426195;179426194;179426193 |
| 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/A | None | None | 1.0 | N | 0.712 | 0.493 | 0.446410834509 | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-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 | 0.7021 | likely_pathogenic | 0.6867 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.499421583 | None | None | N |
| G/C | 0.7459 | likely_pathogenic | 0.7529 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/D | 0.7536 | likely_pathogenic | 0.7547 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/E | 0.8727 | likely_pathogenic | 0.8657 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.514892492 | None | None | N |
| G/F | 0.9354 | likely_pathogenic | 0.934 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/H | 0.9119 | likely_pathogenic | 0.918 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/I | 0.9398 | likely_pathogenic | 0.9351 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/K | 0.9634 | likely_pathogenic | 0.9631 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/L | 0.9287 | likely_pathogenic | 0.9244 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/M | 0.9304 | likely_pathogenic | 0.9313 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/N | 0.6476 | likely_pathogenic | 0.6836 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/P | 0.9948 | likely_pathogenic | 0.9939 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/Q | 0.9182 | likely_pathogenic | 0.9167 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/R | 0.9403 | likely_pathogenic | 0.9379 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.51565296 | None | None | N |
| G/S | 0.4577 | ambiguous | 0.4507 | ambiguous | -1.043 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/T | 0.8078 | likely_pathogenic | 0.8103 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/V | 0.889 | likely_pathogenic | 0.8787 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.548507336 | None | None | N |
| G/W | 0.9031 | likely_pathogenic | 0.8983 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/Y | 0.874 | likely_pathogenic | 0.8728 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.815 | 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.