Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21025 | 63298;63299;63300 | chr2:178588652;178588651;178588650 | chr2:179453379;179453378;179453377 |
| N2AB | 19384 | 58375;58376;58377 | chr2:178588652;178588651;178588650 | chr2:179453379;179453378;179453377 |
| N2A | 18457 | 55594;55595;55596 | chr2:178588652;178588651;178588650 | chr2:179453379;179453378;179453377 |
| N2B | 11960 | 36103;36104;36105 | chr2:178588652;178588651;178588650 | chr2:179453379;179453378;179453377 |
| Novex-1 | 12085 | 36478;36479;36480 | chr2:178588652;178588651;178588650 | chr2:179453379;179453378;179453377 |
| Novex-2 | 12152 | 36679;36680;36681 | chr2:178588652;178588651;178588650 | chr2:179453379;179453378;179453377 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs369274001  |
-0.789 | 0.997 | N | 0.554 | 0.25 | 0.607105422054 | gnomAD-2.1.1 | 6.14E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.78916E-04 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs369274001 |
-0.789 | 0.997 | N | 0.554 | 0.25 | 0.607105422054 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.82298E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs369274001 |
-0.789 | 0.997 | N | 0.554 | 0.25 | 0.607105422054 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/I | rs369274001 |
-0.789 | 0.997 | N | 0.554 | 0.25 | 0.607105422054 | gnomAD-4.0.0 | 1.242E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.24353E-04 | None | 0 | 0 | 0 | 1.10811E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6327 | likely_pathogenic | 0.5546 | ambiguous | -2.3 | Highly Destabilizing | 0.999 | D | 0.629 | neutral | N | 0.482607548 | None | None | N |
| V/C | 0.8866 | likely_pathogenic | 0.8814 | pathogenic | -1.784 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| V/D | 0.9932 | likely_pathogenic | 0.9882 | pathogenic | -3.001 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/E | 0.9766 | likely_pathogenic | 0.9585 | pathogenic | -2.796 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.544593315 | None | None | N |
| V/F | 0.8009 | likely_pathogenic | 0.7154 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/G | 0.8784 | likely_pathogenic | 0.8284 | pathogenic | -2.83 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.53323701 | None | None | N |
| V/H | 0.9917 | likely_pathogenic | 0.9862 | pathogenic | -2.549 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/I | 0.1201 | likely_benign | 0.1099 | benign | -0.82 | Destabilizing | 0.997 | D | 0.554 | neutral | N | 0.491951135 | None | None | N |
| V/K | 0.9891 | likely_pathogenic | 0.979 | pathogenic | -2.135 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/L | 0.6764 | likely_pathogenic | 0.5968 | pathogenic | -0.82 | Destabilizing | 0.997 | D | 0.647 | neutral | N | 0.517844084 | None | None | N |
| V/M | 0.6634 | likely_pathogenic | 0.584 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/N | 0.9739 | likely_pathogenic | 0.9572 | pathogenic | -2.391 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/P | 0.9853 | likely_pathogenic | 0.9716 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| V/Q | 0.9752 | likely_pathogenic | 0.9597 | pathogenic | -2.279 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/R | 0.9827 | likely_pathogenic | 0.9673 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/S | 0.8884 | likely_pathogenic | 0.8448 | pathogenic | -2.978 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/T | 0.7985 | likely_pathogenic | 0.724 | pathogenic | -2.63 | Highly Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| V/W | 0.9954 | likely_pathogenic | 0.9924 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/Y | 0.9735 | likely_pathogenic | 0.9555 | pathogenic | -1.626 | Destabilizing | 1.0 | D | 0.788 | 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.