Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20378 | 61357;61358;61359 | chr2:178590593;178590592;178590591 | chr2:179455320;179455319;179455318 |
| N2AB | 18737 | 56434;56435;56436 | chr2:178590593;178590592;178590591 | chr2:179455320;179455319;179455318 |
| N2A | 17810 | 53653;53654;53655 | chr2:178590593;178590592;178590591 | chr2:179455320;179455319;179455318 |
| N2B | 11313 | 34162;34163;34164 | chr2:178590593;178590592;178590591 | chr2:179455320;179455319;179455318 |
| Novex-1 | 11438 | 34537;34538;34539 | chr2:178590593;178590592;178590591 | chr2:179455320;179455319;179455318 |
| Novex-2 | 11505 | 34738;34739;34740 | chr2:178590593;178590592;178590591 | chr2:179455320;179455319;179455318 |
| 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/H | None | None | 1.0 | D | 0.855 | 0.436 | 0.551344072312 | 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/R | rs1228302698  |
-1.375 | 1.0 | N | 0.913 | 0.459 | 0.53837629882 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.5189E-04 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs1228302698 |
-1.375 | 1.0 | N | 0.913 | 0.459 | 0.53837629882 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94099E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs1228302698 |
-1.375 | 1.0 | N | 0.913 | 0.459 | 0.53837629882 | gnomAD-4.0.0 | 6.57765E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.94099E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5959 | likely_pathogenic | 0.5445 | ambiguous | -1.946 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.470963938 | None | None | N |
| P/C | 0.9142 | likely_pathogenic | 0.8904 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/D | 0.9981 | likely_pathogenic | 0.9977 | pathogenic | -2.647 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/E | 0.9935 | likely_pathogenic | 0.9919 | pathogenic | -2.509 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/F | 0.9794 | likely_pathogenic | 0.9638 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/G | 0.9692 | likely_pathogenic | 0.9636 | pathogenic | -2.403 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/H | 0.9859 | likely_pathogenic | 0.9806 | pathogenic | -2.218 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.522998978 | None | None | N |
| P/I | 0.7381 | likely_pathogenic | 0.6052 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/K | 0.9949 | likely_pathogenic | 0.9938 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/L | 0.6263 | likely_pathogenic | 0.5074 | ambiguous | -0.703 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.454669679 | None | None | N |
| P/M | 0.8921 | likely_pathogenic | 0.8367 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/N | 0.9953 | likely_pathogenic | 0.9937 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/Q | 0.9818 | likely_pathogenic | 0.9753 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/R | 0.9876 | likely_pathogenic | 0.9842 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.913 | deleterious | N | 0.511478088 | None | None | N |
| P/S | 0.952 | likely_pathogenic | 0.9431 | pathogenic | -2.301 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.504641233 | None | None | N |
| P/T | 0.8352 | likely_pathogenic | 0.7902 | pathogenic | -2.049 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.510971109 | None | None | N |
| P/V | 0.593 | likely_pathogenic | 0.4807 | ambiguous | -1.089 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/W | 0.9951 | likely_pathogenic | 0.9928 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/Y | 0.9914 | likely_pathogenic | 0.9868 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.905 | 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.