Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5378 | 16357;16358;16359 | chr2:178733044;178733043;178733042 | chr2:179597771;179597770;179597769 |
| N2AB | 5061 | 15406;15407;15408 | chr2:178733044;178733043;178733042 | chr2:179597771;179597770;179597769 |
| N2A | 4134 | 12625;12626;12627 | chr2:178733044;178733043;178733042 | chr2:179597771;179597770;179597769 |
| 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 | 0.925 | 0.522 | 0.871708247235 | gnomAD-4.0.0 | 6.84426E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65711E-05 |
| C/R | None | None | 1.0 | D | 0.937 | 0.655 | 0.887764328481 | 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/Y | rs754271006  |
-1.846 | 1.0 | D | 0.935 | 0.541 | 0.822912675618 | gnomAD-2.1.1 | 4.03E-06 | None | None | disulfide | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs754271006 |
-1.846 | 1.0 | D | 0.935 | 0.541 | 0.822912675618 | gnomAD-4.0.0 | 1.36885E-06 | None | None | disulfide | None | N | None | 0 | 2.23914E-05 | None | 0 | 0 | None | 0 | 0 | 8.99607E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8384 | likely_pathogenic | 0.831 | pathogenic | -1.743 | Destabilizing | 0.998 | D | 0.718 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -1.597 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9067 | likely_pathogenic | 0.9055 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.547101757 | disulfide | None | N |
| C/G | 0.6187 | likely_pathogenic | 0.6 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.52652874 | disulfide | None | N |
| C/H | 0.9966 | likely_pathogenic | 0.9962 | pathogenic | -2.325 | Highly Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9104 | likely_pathogenic | 0.9159 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9061 | likely_pathogenic | 0.9203 | pathogenic | -0.786 | Destabilizing | 0.999 | D | 0.784 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9571 | likely_pathogenic | 0.9643 | pathogenic | -0.038 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9928 | likely_pathogenic | 0.9921 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.945 | deleterious | None | None | disulfide | None | N |
| C/R | 0.995 | likely_pathogenic | 0.994 | pathogenic | -1.632 | Destabilizing | 1.0 | D | 0.937 | deleterious | D | 0.558876136 | disulfide | None | N |
| C/S | 0.8552 | likely_pathogenic | 0.8387 | pathogenic | -2.119 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.535745452 | disulfide | None | N |
| C/T | 0.9106 | likely_pathogenic | 0.9173 | pathogenic | -1.706 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7969 | likely_pathogenic | 0.8103 | pathogenic | -1.083 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9906 | likely_pathogenic | 0.9899 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.558876136 | disulfide | None | N |
| C/Y | 0.9825 | likely_pathogenic | 0.9814 | pathogenic | -1.32 | Destabilizing | 1.0 | D | 0.935 | deleterious | D | 0.558622647 | 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.