Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25013 | 75262;75263;75264 | chr2:178571095;178571094;178571093 | chr2:179435822;179435821;179435820 |
| N2AB | 23372 | 70339;70340;70341 | chr2:178571095;178571094;178571093 | chr2:179435822;179435821;179435820 |
| N2A | 22445 | 67558;67559;67560 | chr2:178571095;178571094;178571093 | chr2:179435822;179435821;179435820 |
| N2B | 15948 | 48067;48068;48069 | chr2:178571095;178571094;178571093 | chr2:179435822;179435821;179435820 |
| Novex-1 | 16073 | 48442;48443;48444 | chr2:178571095;178571094;178571093 | chr2:179435822;179435821;179435820 |
| Novex-2 | 16140 | 48643;48644;48645 | chr2:178571095;178571094;178571093 | chr2:179435822;179435821;179435820 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs744428  |
-2.343 | 1.0 | D | 0.863 | 0.465 | 0.434160288164 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs744428 |
-2.343 | 1.0 | D | 0.863 | 0.465 | 0.434160288164 | gnomAD-4.0.0 | 6.84362E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15958E-05 | 0 |
| P/T | None | None | 1.0 | D | 0.856 | 0.483 | 0.623866145753 | gnomAD-4.0.0 | 6.84362E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99603E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7538 | likely_pathogenic | 0.7475 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.503551597 | None | None | N |
| P/C | 0.9711 | likely_pathogenic | 0.9641 | pathogenic | -2.152 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -3.099 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/E | 0.9969 | likely_pathogenic | 0.9962 | pathogenic | -2.941 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/F | 0.9973 | likely_pathogenic | 0.9966 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/G | 0.9839 | likely_pathogenic | 0.9816 | pathogenic | -2.509 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/H | 0.997 | likely_pathogenic | 0.9961 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/I | 0.8716 | likely_pathogenic | 0.862 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/K | 0.9976 | likely_pathogenic | 0.9968 | pathogenic | -1.69 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/L | 0.6933 | likely_pathogenic | 0.6452 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.889 | deleterious | N | 0.479467908 | None | None | N |
| P/M | 0.947 | likely_pathogenic | 0.939 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/N | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -2.003 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/Q | 0.9936 | likely_pathogenic | 0.9917 | pathogenic | -1.979 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.551307449 | None | None | N |
| P/R | 0.9948 | likely_pathogenic | 0.9932 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.551307449 | None | None | N |
| P/S | 0.9825 | likely_pathogenic | 0.9801 | pathogenic | -2.527 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.532949705 | None | None | N |
| P/T | 0.9203 | likely_pathogenic | 0.9105 | pathogenic | -2.243 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.55080047 | None | None | N |
| P/V | 0.7464 | likely_pathogenic | 0.7248 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/W | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/Y | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | 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.