Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6127 | 18604;18605;18606 | chr2:178729874;178729873;178729872 | chr2:179594601;179594600;179594599 |
| N2AB | 5810 | 17653;17654;17655 | chr2:178729874;178729873;178729872 | chr2:179594601;179594600;179594599 |
| N2A | 4883 | 14872;14873;14874 | chr2:178729874;178729873;178729872 | chr2:179594601;179594600;179594599 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 1.0 | D | 0.911 | 0.803 | 0.901222985285 | gnomAD-4.0.0 | 1.20032E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/G | rs370812788  |
-2.479 | 1.0 | D | 0.895 | 0.898 | None | gnomAD-2.1.1 | 4.68121E-04 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 6.59454E-03 | None | 3.27E-05 | None | 0 | 7.81E-06 | 1.40687E-04 |
| C/G | rs370812788 |
-2.479 | 1.0 | D | 0.895 | 0.898 | None | gnomAD-3.1.2 | 1.31422E-04 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 3.66937E-03 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| C/G | rs370812788 |
-2.479 | 1.0 | D | 0.895 | 0.898 | None | 1000 genomes | 3.99361E-04 | None | None | disulfide | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| C/G | rs370812788 |
-2.479 | 1.0 | D | 0.895 | 0.898 | None | gnomAD-4.0.0 | 1.21467E-04 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 3.28228E-03 | None | 0 | 0 | 4.2383E-06 | 1.09798E-05 | 6.88441E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8437 | likely_pathogenic | 0.8047 | pathogenic | -1.852 | Destabilizing | 0.998 | D | 0.734 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9958 | likely_pathogenic | 0.9939 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9977 | likely_pathogenic | 0.9962 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | disulfide | None | N |
| C/F | 0.7513 | likely_pathogenic | 0.7262 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.641127593 | disulfide | None | N |
| C/G | 0.6188 | likely_pathogenic | 0.5769 | pathogenic | -2.213 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.641127593 | disulfide | None | N |
| C/H | 0.9903 | likely_pathogenic | 0.986 | pathogenic | -2.392 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8279 | likely_pathogenic | 0.7868 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8259 | likely_pathogenic | 0.7751 | pathogenic | -0.869 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9071 | likely_pathogenic | 0.8661 | pathogenic | 0.065 | Stabilizing | 1.0 | D | 0.876 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9818 | likely_pathogenic | 0.9731 | pathogenic | -2.143 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.994 | likely_pathogenic | 0.9904 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9898 | likely_pathogenic | 0.9868 | pathogenic | -1.87 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.666867509 | disulfide | None | N |
| C/S | 0.8776 | likely_pathogenic | 0.8213 | pathogenic | -2.465 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.624906428 | disulfide | None | N |
| C/T | 0.9072 | likely_pathogenic | 0.8547 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7484 | likely_pathogenic | 0.6886 | pathogenic | -1.176 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9674 | likely_pathogenic | 0.9615 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.666867509 | disulfide | None | N |
| C/Y | 0.907 | likely_pathogenic | 0.8893 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.650646344 | disulfide | 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.