Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20733 | 62422;62423;62424 | chr2:178589528;178589527;178589526 | chr2:179454255;179454254;179454253 |
| N2AB | 19092 | 57499;57500;57501 | chr2:178589528;178589527;178589526 | chr2:179454255;179454254;179454253 |
| N2A | 18165 | 54718;54719;54720 | chr2:178589528;178589527;178589526 | chr2:179454255;179454254;179454253 |
| N2B | 11668 | 35227;35228;35229 | chr2:178589528;178589527;178589526 | chr2:179454255;179454254;179454253 |
| Novex-1 | 11793 | 35602;35603;35604 | chr2:178589528;178589527;178589526 | chr2:179454255;179454254;179454253 |
| Novex-2 | 11860 | 35803;35804;35805 | chr2:178589528;178589527;178589526 | chr2:179454255;179454254;179454253 |
| 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/R | None | None | 1.0 | N | 0.897 | 0.582 | 0.821986486368 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| C/S | None | None | 1.0 | N | 0.849 | 0.451 | 0.678363647089 | gnomAD-4.0.0 | 1.59218E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78303E-05 | None | 0 | 0 | 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 | 0.8719 | likely_pathogenic | 0.8807 | pathogenic | -1.836 | Destabilizing | 0.998 | D | 0.825 | deleterious | None | None | None | None | N |
| C/D | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| C/E | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| C/F | 0.8789 | likely_pathogenic | 0.878 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.883 | deleterious | N | 0.486329098 | None | None | N |
| C/G | 0.8418 | likely_pathogenic | 0.8348 | pathogenic | -2.209 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | N | 0.505608292 | None | None | N |
| C/H | 0.9972 | likely_pathogenic | 0.9974 | pathogenic | -2.322 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| C/I | 0.8556 | likely_pathogenic | 0.8842 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| C/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| C/L | 0.5659 | likely_pathogenic | 0.5212 | ambiguous | -0.836 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| C/M | 0.8774 | likely_pathogenic | 0.876 | pathogenic | 0.15 | Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| C/N | 0.9929 | likely_pathogenic | 0.9933 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| C/P | 0.9979 | likely_pathogenic | 0.9969 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| C/Q | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| C/R | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.897 | deleterious | N | 0.505608292 | None | None | N |
| C/S | 0.9617 | likely_pathogenic | 0.9688 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.505608292 | None | None | N |
| C/T | 0.9433 | likely_pathogenic | 0.9543 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| C/V | 0.744 | likely_pathogenic | 0.7923 | pathogenic | -1.144 | Destabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| C/W | 0.9937 | likely_pathogenic | 0.9945 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.505608292 | None | None | N |
| C/Y | 0.981 | likely_pathogenic | 0.9821 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.89 | deleterious | N | 0.505608292 | 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.