Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1345 | 4258;4259;4260 | chr2:178779049;178779048;178779047 | chr2:179643776;179643775;179643774 |
| N2AB | 1345 | 4258;4259;4260 | chr2:178779049;178779048;178779047 | chr2:179643776;179643775;179643774 |
| N2A | 1345 | 4258;4259;4260 | chr2:178779049;178779048;178779047 | chr2:179643776;179643775;179643774 |
| N2B | 1299 | 4120;4121;4122 | chr2:178779049;178779048;178779047 | chr2:179643776;179643775;179643774 |
| Novex-1 | 1299 | 4120;4121;4122 | chr2:178779049;178779048;178779047 | chr2:179643776;179643775;179643774 |
| Novex-2 | 1299 | 4120;4121;4122 | chr2:178779049;178779048;178779047 | chr2:179643776;179643775;179643774 |
| Novex-3 | 1345 | 4258;4259;4260 | chr2:178779049;178779048;178779047 | chr2:179643776;179643775;179643774 |
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/D | rs36021856  |
-1.349 | 1.0 | D | 0.827 | 0.679 | None | gnomAD-2.1.1 | 1.12591E-02 | None | None | None | None | N | None | 1.00208E-03 | 1.63888E-03 | None | 8.70575E-04 | 0 | None | 7.1886E-04 | None | 6.99139E-02 | 9.38605E-03 | 1.39121E-02 |
| G/D | rs36021856 |
-1.349 | 1.0 | D | 0.827 | 0.679 | None | gnomAD-3.1.2 | 1.01921E-02 | None | None | None | None | N | None | 1.20633E-03 | 4.38424E-03 | 0 | 2.88184E-04 | 0 | None | 7.59207E-02 | 0 | 8.93644E-03 | 6.21375E-04 | 8.60421E-03 |
| G/D | rs36021856 |
-1.349 | 1.0 | D | 0.827 | 0.679 | None | 1000 genomes | 3.79393E-03 | None | None | None | None | N | None | 0 | 4.3E-03 | None | None | 0 | 1.59E-02 | None | None | None | 0 | None |
| G/D | rs36021856 |
-1.349 | 1.0 | D | 0.827 | 0.679 | None | gnomAD-4.0.0 | 8.28819E-03 | None | None | None | None | N | None | 1.0661E-03 | 2.21608E-03 | None | 7.76922E-04 | 0 | None | 6.74607E-02 | 9.89772E-04 | 6.99693E-03 | 5.81932E-04 | 8.15948E-03 |
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 | 0.775 | likely_pathogenic | 0.8045 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.638145073 | None | None | N |
| G/C | 0.8701 | likely_pathogenic | 0.8968 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.7746329 | None | None | N |
| G/D | 0.9329 | likely_pathogenic | 0.9539 | pathogenic | -1.698 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.577557694 | None | None | N |
| G/E | 0.9186 | likely_pathogenic | 0.938 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/F | 0.9902 | likely_pathogenic | 0.9923 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| G/H | 0.9437 | likely_pathogenic | 0.9599 | pathogenic | -1.706 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/I | 0.9879 | likely_pathogenic | 0.99 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/K | 0.9418 | likely_pathogenic | 0.9564 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/L | 0.9797 | likely_pathogenic | 0.9844 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/M | 0.9787 | likely_pathogenic | 0.9842 | pathogenic | -0.076 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/N | 0.8423 | likely_pathogenic | 0.8867 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/P | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/Q | 0.8624 | likely_pathogenic | 0.8963 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/R | 0.8816 | likely_pathogenic | 0.9057 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.676837554 | None | None | N |
| G/S | 0.4932 | ambiguous | 0.5559 | ambiguous | -1.475 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.583156191 | None | None | N |
| G/T | 0.9179 | likely_pathogenic | 0.9349 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/V | 0.9774 | likely_pathogenic | 0.9816 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.699749837 | None | None | N |
| G/W | 0.9774 | likely_pathogenic | 0.9812 | pathogenic | -1.507 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/Y | 0.9733 | likely_pathogenic | 0.9792 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.768 | 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.