Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6178 | 18757;18758;18759 | chr2:178729721;178729720;178729719 | chr2:179594448;179594447;179594446 |
| N2AB | 5861 | 17806;17807;17808 | chr2:178729721;178729720;178729719 | chr2:179594448;179594447;179594446 |
| N2A | 4934 | 15025;15026;15027 | chr2:178729721;178729720;178729719 | chr2:179594448;179594447;179594446 |
| 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/W | rs1560777515  |
None | 1.0 | D | 0.866 | 0.713 | 0.846997931514 | gnomAD-2.1.1 | 4.02E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| C/W | rs1560777515 |
None | 1.0 | D | 0.866 | 0.713 | 0.846997931514 | gnomAD-4.0.0 | 1.59136E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 2.77285E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs760469804 |
-1.619 | 1.0 | D | 0.899 | 0.599 | 0.895021782458 | gnomAD-2.1.1 | 4.02E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 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 | 0.9249 | likely_pathogenic | 0.9265 | pathogenic | -1.596 | Destabilizing | 0.998 | D | 0.731 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8261 | likely_pathogenic | 0.7924 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.643084915 | disulfide | None | N |
| C/G | 0.8625 | likely_pathogenic | 0.8604 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.670237461 | disulfide | None | N |
| C/H | 0.997 | likely_pathogenic | 0.9959 | pathogenic | -2.139 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8951 | likely_pathogenic | 0.8886 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8097 | likely_pathogenic | 0.7978 | pathogenic | -0.578 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9467 | likely_pathogenic | 0.9379 | pathogenic | 0.346 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | disulfide | None | N |
| C/N | 0.997 | likely_pathogenic | 0.9966 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9916 | likely_pathogenic | 0.9899 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.670237461 | disulfide | None | N |
| C/S | 0.9729 | likely_pathogenic | 0.9714 | pathogenic | -1.716 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.670237461 | disulfide | None | N |
| C/T | 0.9778 | likely_pathogenic | 0.9749 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | disulfide | None | N |
| C/V | 0.8347 | likely_pathogenic | 0.8174 | pathogenic | -0.894 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9819 | likely_pathogenic | 0.9789 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.670237461 | disulfide | None | N |
| C/Y | 0.9722 | likely_pathogenic | 0.9652 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.670035656 | 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.