Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33266 | 100021;100022;100023 | chr2:178537411;178537410;178537409 | chr2:179402138;179402137;179402136 |
| N2AB | 31625 | 95098;95099;95100 | chr2:178537411;178537410;178537409 | chr2:179402138;179402137;179402136 |
| N2A | 30698 | 92317;92318;92319 | chr2:178537411;178537410;178537409 | chr2:179402138;179402137;179402136 |
| N2B | 24201 | 72826;72827;72828 | chr2:178537411;178537410;178537409 | chr2:179402138;179402137;179402136 |
| Novex-1 | 24326 | 73201;73202;73203 | chr2:178537411;178537410;178537409 | chr2:179402138;179402137;179402136 |
| Novex-2 | 24393 | 73402;73403;73404 | chr2:178537411;178537410;178537409 | chr2:179402138;179402137;179402136 |
| 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/R | rs2154138225  |
None | 1.0 | D | 0.825 | 0.792 | 0.863588250039 | gnomAD-4.0.0 | 3.20244E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78195E-05 | None | 0 | 0 | 2.88028E-06 | 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 | 0.7267 | likely_pathogenic | 0.7458 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.545216821 | None | None | N |
| G/C | 0.929 | likely_pathogenic | 0.9422 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/D | 0.9122 | likely_pathogenic | 0.9121 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/E | 0.9448 | likely_pathogenic | 0.941 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.58542059 | None | None | N |
| G/F | 0.9935 | likely_pathogenic | 0.9937 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/H | 0.9875 | likely_pathogenic | 0.9877 | pathogenic | -1.455 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/I | 0.9921 | likely_pathogenic | 0.9935 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/K | 0.9749 | likely_pathogenic | 0.9756 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/L | 0.9845 | likely_pathogenic | 0.9861 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/M | 0.9915 | likely_pathogenic | 0.9926 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/N | 0.9589 | likely_pathogenic | 0.9615 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/P | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/Q | 0.9557 | likely_pathogenic | 0.9527 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/R | 0.9421 | likely_pathogenic | 0.9423 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.585218785 | None | None | N |
| G/S | 0.6345 | likely_pathogenic | 0.645 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/T | 0.9482 | likely_pathogenic | 0.9529 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/V | 0.9766 | likely_pathogenic | 0.9812 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.58542059 | None | None | N |
| G/W | 0.9901 | likely_pathogenic | 0.9899 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.585622394 | None | None | N |
| G/Y | 0.9927 | likely_pathogenic | 0.9931 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.781 | 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.