Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14118 | 42577;42578;42579 | chr2:178634429;178634428;178634427 | chr2:179499156;179499155;179499154 |
| N2AB | 12477 | 37654;37655;37656 | chr2:178634429;178634428;178634427 | chr2:179499156;179499155;179499154 |
| N2A | 11550 | 34873;34874;34875 | chr2:178634429;178634428;178634427 | chr2:179499156;179499155;179499154 |
| N2B | 5053 | 15382;15383;15384 | chr2:178634429;178634428;178634427 | chr2:179499156;179499155;179499154 |
| Novex-1 | 5178 | 15757;15758;15759 | chr2:178634429;178634428;178634427 | chr2:179499156;179499155;179499154 |
| Novex-2 | 5245 | 15958;15959;15960 | chr2:178634429;178634428;178634427 | chr2:179499156;179499155;179499154 |
| 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/E | None | None | 1.0 | D | 0.546 | 0.613 | 0.530852358449 | gnomAD-4.0.0 | 1.36899E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79938E-06 | 0 | 0 |
| D/V | None | None | 1.0 | D | 0.836 | 0.819 | 0.838979274215 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9552 | likely_pathogenic | 0.9444 | pathogenic | 0.261 | Stabilizing | 1.0 | D | 0.843 | deleterious | D | 0.786317645 | None | None | N |
| D/C | 0.9877 | likely_pathogenic | 0.984 | pathogenic | 0.189 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/E | 0.9026 | likely_pathogenic | 0.8874 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.546 | neutral | D | 0.787467922 | None | None | N |
| D/F | 0.9933 | likely_pathogenic | 0.991 | pathogenic | 0.925 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| D/G | 0.9618 | likely_pathogenic | 0.9464 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.78555239 | None | None | N |
| D/H | 0.9523 | likely_pathogenic | 0.9367 | pathogenic | 0.468 | Stabilizing | 1.0 | D | 0.819 | deleterious | D | 0.714209547 | None | None | N |
| D/I | 0.9922 | likely_pathogenic | 0.9868 | pathogenic | 1.541 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/K | 0.9881 | likely_pathogenic | 0.9787 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/L | 0.9866 | likely_pathogenic | 0.9805 | pathogenic | 1.541 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/M | 0.9937 | likely_pathogenic | 0.9902 | pathogenic | 1.962 | Stabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| D/N | 0.7904 | likely_pathogenic | 0.6843 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.787919541 | None | None | N |
| D/P | 0.999 | likely_pathogenic | 0.9983 | pathogenic | 1.145 | Stabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| D/Q | 0.977 | likely_pathogenic | 0.9697 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/R | 0.9889 | likely_pathogenic | 0.9826 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/S | 0.8963 | likely_pathogenic | 0.8504 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/T | 0.9757 | likely_pathogenic | 0.9578 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/V | 0.9753 | likely_pathogenic | 0.9609 | pathogenic | 1.145 | Stabilizing | 1.0 | D | 0.836 | deleterious | D | 0.785526528 | None | None | N |
| D/W | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | 0.964 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/Y | 0.9557 | likely_pathogenic | 0.9402 | pathogenic | 1.182 | Stabilizing | 1.0 | D | 0.837 | deleterious | D | 0.78562072 | 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.