Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27453 | 82582;82583;82584 | chr2:178563775;178563774;178563773 | chr2:179428502;179428501;179428500 |
| N2AB | 25812 | 77659;77660;77661 | chr2:178563775;178563774;178563773 | chr2:179428502;179428501;179428500 |
| N2A | 24885 | 74878;74879;74880 | chr2:178563775;178563774;178563773 | chr2:179428502;179428501;179428500 |
| N2B | 18388 | 55387;55388;55389 | chr2:178563775;178563774;178563773 | chr2:179428502;179428501;179428500 |
| Novex-1 | 18513 | 55762;55763;55764 | chr2:178563775;178563774;178563773 | chr2:179428502;179428501;179428500 |
| Novex-2 | 18580 | 55963;55964;55965 | chr2:178563775;178563774;178563773 | chr2:179428502;179428501;179428500 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1036707578  |
-2.165 | 1.0 | D | 0.927 | 0.691 | 0.592827455569 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| G/E | rs1036707578 |
-2.165 | 1.0 | D | 0.927 | 0.691 | 0.592827455569 | gnomAD-4.0.0 | 1.59139E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88232E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6474 | likely_pathogenic | 0.63 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.540682976 | None | None | N |
| G/C | 0.8996 | likely_pathogenic | 0.8911 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/D | 0.9882 | likely_pathogenic | 0.9865 | pathogenic | -2.181 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/E | 0.9909 | likely_pathogenic | 0.9905 | pathogenic | -2.173 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.541189955 | None | None | N |
| G/F | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/H | 0.9936 | likely_pathogenic | 0.9931 | pathogenic | -1.626 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/I | 0.9948 | likely_pathogenic | 0.9944 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/K | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| G/L | 0.9919 | likely_pathogenic | 0.9916 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| G/M | 0.9937 | likely_pathogenic | 0.9931 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/N | 0.9848 | likely_pathogenic | 0.983 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/P | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| G/Q | 0.9911 | likely_pathogenic | 0.9901 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| G/R | 0.9902 | likely_pathogenic | 0.9896 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.931 | deleterious | D | 0.530340628 | None | None | N |
| G/S | 0.2621 | likely_benign | 0.2497 | benign | -1.522 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/T | 0.8797 | likely_pathogenic | 0.8663 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| G/V | 0.9855 | likely_pathogenic | 0.9837 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.553306729 | None | None | N |
| G/W | 0.9909 | likely_pathogenic | 0.9911 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/Y | 0.9959 | likely_pathogenic | 0.9958 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.892 | 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.