Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14429 | 43510;43511;43512 | chr2:178632721;178632720;178632719 | chr2:179497448;179497447;179497446 |
| N2AB | 12788 | 38587;38588;38589 | chr2:178632721;178632720;178632719 | chr2:179497448;179497447;179497446 |
| N2A | 11861 | 35806;35807;35808 | chr2:178632721;178632720;178632719 | chr2:179497448;179497447;179497446 |
| N2B | 5364 | 16315;16316;16317 | chr2:178632721;178632720;178632719 | chr2:179497448;179497447;179497446 |
| Novex-1 | 5489 | 16690;16691;16692 | chr2:178632721;178632720;178632719 | chr2:179497448;179497447;179497446 |
| Novex-2 | 5556 | 16891;16892;16893 | chr2:178632721;178632720;178632719 | chr2:179497448;179497447;179497446 |
| 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/Y | rs2059953559  |
None | 0.999 | D | 0.882 | 0.568 | 0.903517915455 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| C/Y | rs2059953559 |
None | 0.999 | D | 0.882 | 0.568 | 0.903517915455 | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 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 | 0.6149 | likely_pathogenic | 0.6041 | pathogenic | -1.281 | Destabilizing | 0.982 | D | 0.691 | prob.neutral | None | None | None | None | N |
| C/D | 0.9942 | likely_pathogenic | 0.9948 | pathogenic | -1.555 | Destabilizing | 0.999 | D | 0.901 | deleterious | None | None | None | None | N |
| C/E | 0.9963 | likely_pathogenic | 0.9958 | pathogenic | -1.293 | Destabilizing | 0.999 | D | 0.901 | deleterious | None | None | None | None | N |
| C/F | 0.7984 | likely_pathogenic | 0.7746 | pathogenic | -0.735 | Destabilizing | 0.994 | D | 0.879 | deleterious | D | 0.691507557 | None | None | N |
| C/G | 0.4554 | ambiguous | 0.4792 | ambiguous | -1.617 | Destabilizing | 0.999 | D | 0.881 | deleterious | D | 0.691507557 | None | None | N |
| C/H | 0.9915 | likely_pathogenic | 0.9905 | pathogenic | -1.905 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| C/I | 0.6904 | likely_pathogenic | 0.6331 | pathogenic | -0.362 | Destabilizing | 0.971 | D | 0.769 | deleterious | None | None | None | None | N |
| C/K | 0.998 | likely_pathogenic | 0.9977 | pathogenic | -0.816 | Destabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | N |
| C/L | 0.7245 | likely_pathogenic | 0.6558 | pathogenic | -0.362 | Destabilizing | 0.08 | N | 0.578 | neutral | None | None | None | None | N |
| C/M | 0.8528 | likely_pathogenic | 0.8017 | pathogenic | -0.316 | Destabilizing | 0.996 | D | 0.816 | deleterious | None | None | None | None | N |
| C/N | 0.9683 | likely_pathogenic | 0.967 | pathogenic | -1.525 | Destabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | N |
| C/P | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -0.649 | Destabilizing | 0.999 | D | 0.897 | deleterious | None | None | None | None | N |
| C/Q | 0.9936 | likely_pathogenic | 0.9918 | pathogenic | -0.937 | Destabilizing | 0.999 | D | 0.899 | deleterious | None | None | None | None | N |
| C/R | 0.9864 | likely_pathogenic | 0.985 | pathogenic | -1.481 | Destabilizing | 0.999 | D | 0.898 | deleterious | D | 0.69161839 | None | None | N |
| C/S | 0.6991 | likely_pathogenic | 0.7021 | pathogenic | -1.719 | Destabilizing | 0.997 | D | 0.823 | deleterious | D | 0.655819569 | None | None | N |
| C/T | 0.6589 | likely_pathogenic | 0.64 | pathogenic | -1.29 | Destabilizing | 0.993 | D | 0.805 | deleterious | None | None | None | None | N |
| C/V | 0.4927 | ambiguous | 0.4364 | ambiguous | -0.649 | Destabilizing | 0.971 | D | 0.755 | deleterious | None | None | None | None | N |
| C/W | 0.9739 | likely_pathogenic | 0.97 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.691565016 | None | None | N |
| C/Y | 0.9317 | likely_pathogenic | 0.9294 | pathogenic | -0.989 | Destabilizing | 0.999 | D | 0.882 | deleterious | D | 0.69161839 | 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.