Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35768 | 107527;107528;107529 | chr2:178528349;178528348;178528347 | chr2:179393076;179393075;179393074 |
| N2AB | 34127 | 102604;102605;102606 | chr2:178528349;178528348;178528347 | chr2:179393076;179393075;179393074 |
| N2A | 33200 | 99823;99824;99825 | chr2:178528349;178528348;178528347 | chr2:179393076;179393075;179393074 |
| N2B | 26703 | 80332;80333;80334 | chr2:178528349;178528348;178528347 | chr2:179393076;179393075;179393074 |
| Novex-1 | 26828 | 80707;80708;80709 | chr2:178528349;178528348;178528347 | chr2:179393076;179393075;179393074 |
| Novex-2 | 26895 | 80908;80909;80910 | chr2:178528349;178528348;178528347 | chr2:179393076;179393075;179393074 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs794729571  |
-0.408 | 0.977 | D | 0.391 | 0.641 | 0.617340952311 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/N | rs794729571 |
-0.408 | 0.977 | D | 0.391 | 0.641 | 0.617340952311 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs794729571 |
-0.408 | 0.977 | D | 0.391 | 0.641 | 0.617340952311 | gnomAD-4.0.0 | 6.81569E-06 | None | None | None | None | N | None | 7.99723E-05 | 1.66583E-05 | None | 0 | 0 | None | 0 | 0 | 2.54271E-06 | 1.09801E-05 | 0 |
| D/V | None | None | 1.0 | D | 0.863 | 0.904 | 0.828757793854 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85778E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8151 | likely_pathogenic | 0.8301 | pathogenic | -0.292 | Destabilizing | 0.999 | D | 0.845 | deleterious | D | 0.661052674 | None | None | N |
| D/C | 0.9622 | likely_pathogenic | 0.9679 | pathogenic | 0.019 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/E | 0.7256 | likely_pathogenic | 0.7463 | pathogenic | -0.569 | Destabilizing | 0.996 | D | 0.647 | neutral | D | 0.618284376 | None | None | N |
| D/F | 0.9709 | likely_pathogenic | 0.9694 | pathogenic | 0.354 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/G | 0.882 | likely_pathogenic | 0.8906 | pathogenic | -0.671 | Destabilizing | 0.996 | D | 0.74 | deleterious | D | 0.661254478 | None | None | N |
| D/H | 0.7991 | likely_pathogenic | 0.7953 | pathogenic | 0.214 | Stabilizing | 1.0 | D | 0.831 | deleterious | D | 0.583216795 | None | None | N |
| D/I | 0.9558 | likely_pathogenic | 0.9645 | pathogenic | 0.718 | Stabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| D/K | 0.9641 | likely_pathogenic | 0.9646 | pathogenic | 0.34 | Stabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| D/L | 0.9491 | likely_pathogenic | 0.9535 | pathogenic | 0.718 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/M | 0.9801 | likely_pathogenic | 0.9831 | pathogenic | 1.081 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/N | 0.3836 | ambiguous | 0.4122 | ambiguous | -0.514 | Destabilizing | 0.977 | D | 0.391 | neutral | D | 0.611147992 | None | None | N |
| D/P | 0.9966 | likely_pathogenic | 0.9972 | pathogenic | 0.407 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/Q | 0.9174 | likely_pathogenic | 0.9221 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/R | 0.9707 | likely_pathogenic | 0.9712 | pathogenic | 0.467 | Stabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| D/S | 0.5807 | likely_pathogenic | 0.612 | pathogenic | -0.687 | Destabilizing | 0.997 | D | 0.659 | neutral | None | None | None | None | N |
| D/T | 0.8984 | likely_pathogenic | 0.9166 | pathogenic | -0.33 | Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| D/V | 0.8815 | likely_pathogenic | 0.8996 | pathogenic | 0.407 | Stabilizing | 1.0 | D | 0.863 | deleterious | D | 0.6293872 | None | None | N |
| D/W | 0.996 | likely_pathogenic | 0.9961 | pathogenic | 0.636 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/Y | 0.8133 | likely_pathogenic | 0.8051 | pathogenic | 0.68 | Stabilizing | 1.0 | D | 0.866 | deleterious | D | 0.629185396 | 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.