Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20799 | 62620;62621;62622 | chr2:178589330;178589329;178589328 | chr2:179454057;179454056;179454055 |
| N2AB | 19158 | 57697;57698;57699 | chr2:178589330;178589329;178589328 | chr2:179454057;179454056;179454055 |
| N2A | 18231 | 54916;54917;54918 | chr2:178589330;178589329;178589328 | chr2:179454057;179454056;179454055 |
| N2B | 11734 | 35425;35426;35427 | chr2:178589330;178589329;178589328 | chr2:179454057;179454056;179454055 |
| Novex-1 | 11859 | 35800;35801;35802 | chr2:178589330;178589329;178589328 | chr2:179454057;179454056;179454055 |
| Novex-2 | 11926 | 36001;36002;36003 | chr2:178589330;178589329;178589328 | chr2:179454057;179454056;179454055 |
| 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/L | None | None | 1.0 | D | 0.817 | 0.64 | 0.780217970496 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.831 | 0.685 | 0.610141243409 | gnomAD-4.0.0 | 3.42322E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.4997E-06 | 0 | 0 |
| P/T | rs1300626441  |
-1.899 | 1.0 | D | 0.839 | 0.689 | 0.654251013966 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11794E-04 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs1300626441 |
-1.899 | 1.0 | D | 0.839 | 0.689 | 0.654251013966 | gnomAD-4.0.0 | 6.1618E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.2618E-04 | None | 0 | 0 | 0 | 2.32083E-05 | 3.31532E-05 |
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 | 0.8385 | likely_pathogenic | 0.857 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.533575038 | None | None | N |
| P/C | 0.9841 | likely_pathogenic | 0.9854 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| P/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.855 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/E | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/G | 0.9913 | likely_pathogenic | 0.9891 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/H | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| P/I | 0.9922 | likely_pathogenic | 0.9934 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/K | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/L | 0.9745 | likely_pathogenic | 0.974 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.537926223 | None | None | N |
| P/M | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| P/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| P/Q | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -1.369 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.576722535 | None | None | N |
| P/R | 0.9967 | likely_pathogenic | 0.9958 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.565366229 | None | None | N |
| P/S | 0.99 | likely_pathogenic | 0.9883 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.558111301 | None | None | N |
| P/T | 0.9888 | likely_pathogenic | 0.9886 | pathogenic | -1.616 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.56485925 | None | None | N |
| P/V | 0.9753 | likely_pathogenic | 0.9792 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.803 | 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.