Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27653 | 83182;83183;83184 | chr2:178563175;178563174;178563173 | chr2:179427902;179427901;179427900 |
| N2AB | 26012 | 78259;78260;78261 | chr2:178563175;178563174;178563173 | chr2:179427902;179427901;179427900 |
| N2A | 25085 | 75478;75479;75480 | chr2:178563175;178563174;178563173 | chr2:179427902;179427901;179427900 |
| N2B | 18588 | 55987;55988;55989 | chr2:178563175;178563174;178563173 | chr2:179427902;179427901;179427900 |
| Novex-1 | 18713 | 56362;56363;56364 | chr2:178563175;178563174;178563173 | chr2:179427902;179427901;179427900 |
| Novex-2 | 18780 | 56563;56564;56565 | chr2:178563175;178563174;178563173 | chr2:179427902;179427901;179427900 |
| 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/A | rs1170971325  |
None | 1.0 | D | 0.752 | 0.769 | 0.450152462452 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs765461830 |
-0.722 | 1.0 | D | 0.86 | 0.76 | 0.418095516054 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.66982E-04 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs765461830 |
-0.722 | 1.0 | D | 0.86 | 0.76 | 0.418095516054 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | I | None | 2.98882E-05 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.895 | 0.784 | 0.87109290191 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 | 0.7697 | likely_pathogenic | 0.741 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.555302327 | None | None | I |
| G/C | 0.918 | likely_pathogenic | 0.8993 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.57467403 | None | None | I |
| G/D | 0.8969 | likely_pathogenic | 0.8808 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.550022408 | None | None | I |
| G/E | 0.9418 | likely_pathogenic | 0.9311 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/F | 0.9844 | likely_pathogenic | 0.9809 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/H | 0.9748 | likely_pathogenic | 0.9691 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/I | 0.97 | likely_pathogenic | 0.9595 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/K | 0.9605 | likely_pathogenic | 0.9538 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/L | 0.977 | likely_pathogenic | 0.9739 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/M | 0.9758 | likely_pathogenic | 0.9713 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/N | 0.9164 | likely_pathogenic | 0.9076 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/P | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/Q | 0.9585 | likely_pathogenic | 0.9489 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | I |
| G/R | 0.9345 | likely_pathogenic | 0.9235 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.562303766 | None | None | I |
| G/S | 0.668 | likely_pathogenic | 0.6543 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.538666103 | None | None | I |
| G/T | 0.8826 | likely_pathogenic | 0.8658 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/V | 0.939 | likely_pathogenic | 0.9226 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.562557256 | None | None | I |
| G/W | 0.9722 | likely_pathogenic | 0.9623 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/Y | 0.9617 | likely_pathogenic | 0.9541 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
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.