Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1737 | 5434;5435;5436 | chr2:178776655;178776654;178776653 | chr2:179641382;179641381;179641380 |
| N2AB | 1737 | 5434;5435;5436 | chr2:178776655;178776654;178776653 | chr2:179641382;179641381;179641380 |
| N2A | 1737 | 5434;5435;5436 | chr2:178776655;178776654;178776653 | chr2:179641382;179641381;179641380 |
| N2B | 1691 | 5296;5297;5298 | chr2:178776655;178776654;178776653 | chr2:179641382;179641381;179641380 |
| Novex-1 | 1691 | 5296;5297;5298 | chr2:178776655;178776654;178776653 | chr2:179641382;179641381;179641380 |
| Novex-2 | 1691 | 5296;5297;5298 | chr2:178776655;178776654;178776653 | chr2:179641382;179641381;179641380 |
| Novex-3 | 1737 | 5434;5435;5436 | chr2:178776655;178776654;178776653 | chr2:179641382;179641381;179641380 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | None | None | 0.999 | D | 0.504 | 0.416 | 0.223146558224 | gnomAD-4.0.0 | 1.59066E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85647E-06 | 0 | 0 |
| E/G | rs766132240  |
-0.932 | 1.0 | D | 0.73 | 0.684 | 0.645789463786 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/G | rs766132240 |
-0.932 | 1.0 | D | 0.73 | 0.684 | 0.645789463786 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs766132240 |
-0.932 | 1.0 | D | 0.73 | 0.684 | 0.645789463786 | gnomAD-4.0.0 | 2.56119E-06 | None | None | None | None | N | None | 1.69085E-05 | 1.69492E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6971 | likely_pathogenic | 0.6803 | pathogenic | -0.874 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | D | 0.582949153 | None | None | N |
| E/C | 0.9919 | likely_pathogenic | 0.9898 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| E/D | 0.3935 | ambiguous | 0.5106 | ambiguous | -1.261 | Destabilizing | 0.999 | D | 0.504 | neutral | D | 0.603099845 | None | None | N |
| E/F | 0.9902 | likely_pathogenic | 0.9902 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/G | 0.8302 | likely_pathogenic | 0.8319 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | D | 0.673728701 | None | None | N |
| E/H | 0.923 | likely_pathogenic | 0.9204 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| E/I | 0.9244 | likely_pathogenic | 0.9214 | pathogenic | 0.223 | Stabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| E/K | 0.8112 | likely_pathogenic | 0.8109 | pathogenic | -1.039 | Destabilizing | 0.999 | D | 0.598 | neutral | D | 0.529455989 | None | None | N |
| E/L | 0.9421 | likely_pathogenic | 0.9345 | pathogenic | 0.223 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/M | 0.9418 | likely_pathogenic | 0.9331 | pathogenic | 0.704 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| E/N | 0.7872 | likely_pathogenic | 0.8263 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| E/P | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| E/Q | 0.4661 | ambiguous | 0.4225 | ambiguous | -1.271 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.509529601 | None | None | N |
| E/R | 0.8769 | likely_pathogenic | 0.8732 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| E/S | 0.6263 | likely_pathogenic | 0.6334 | pathogenic | -1.813 | Destabilizing | 0.999 | D | 0.66 | neutral | None | None | None | None | N |
| E/T | 0.7221 | likely_pathogenic | 0.7224 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| E/V | 0.8119 | likely_pathogenic | 0.8013 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.514716591 | None | None | N |
| E/W | 0.9967 | likely_pathogenic | 0.9967 | pathogenic | -0.021 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| E/Y | 0.9767 | likely_pathogenic | 0.9782 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.798 | 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.