Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32796 | 98611;98612;98613 | chr2:178539679;178539678;178539677 | chr2:179404406;179404405;179404404 |
| N2AB | 31155 | 93688;93689;93690 | chr2:178539679;178539678;178539677 | chr2:179404406;179404405;179404404 |
| N2A | 30228 | 90907;90908;90909 | chr2:178539679;178539678;178539677 | chr2:179404406;179404405;179404404 |
| N2B | 23731 | 71416;71417;71418 | chr2:178539679;178539678;178539677 | chr2:179404406;179404405;179404404 |
| Novex-1 | 23856 | 71791;71792;71793 | chr2:178539679;178539678;178539677 | chr2:179404406;179404405;179404404 |
| Novex-2 | 23923 | 71992;71993;71994 | chr2:178539679;178539678;178539677 | chr2:179404406;179404405;179404404 |
| 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/A | rs1693423139  |
None | 0.999 | D | 0.876 | 0.644 | 0.642232531769 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02352E-05 |
| P/L | None | None | 1.0 | D | 0.922 | 0.717 | 0.815310838606 | gnomAD-4.0.0 | 8.89541E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.16929E-05 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.923 | 0.659 | 0.64230605287 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88879E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9094 | likely_pathogenic | 0.8486 | pathogenic | -0.827 | Destabilizing | 0.999 | D | 0.876 | deleterious | D | 0.645924482 | None | None | N |
| P/C | 0.9891 | likely_pathogenic | 0.9804 | pathogenic | -2.001 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9988 | pathogenic | -3.295 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/E | 0.9981 | likely_pathogenic | 0.9962 | pathogenic | -3.256 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/G | 0.9929 | likely_pathogenic | 0.9875 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/H | 0.998 | likely_pathogenic | 0.996 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.646529895 | None | None | N |
| P/I | 0.9917 | likely_pathogenic | 0.9843 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/K | 0.9982 | likely_pathogenic | 0.9969 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/L | 0.9799 | likely_pathogenic | 0.9627 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.922 | deleterious | D | 0.64531907 | None | None | N |
| P/M | 0.9967 | likely_pathogenic | 0.9936 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/N | 0.999 | likely_pathogenic | 0.9978 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/Q | 0.9959 | likely_pathogenic | 0.9917 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/R | 0.9937 | likely_pathogenic | 0.9893 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.63030873 | None | None | N |
| P/S | 0.9851 | likely_pathogenic | 0.9698 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.645924482 | None | None | N |
| P/T | 0.978 | likely_pathogenic | 0.9562 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.63030873 | None | None | N |
| P/V | 0.9748 | likely_pathogenic | 0.9564 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.923 | 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.