Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25780 | 77563;77564;77565 | chr2:178568794;178568793;178568792 | chr2:179433521;179433520;179433519 |
| N2AB | 24139 | 72640;72641;72642 | chr2:178568794;178568793;178568792 | chr2:179433521;179433520;179433519 |
| N2A | 23212 | 69859;69860;69861 | chr2:178568794;178568793;178568792 | chr2:179433521;179433520;179433519 |
| N2B | 16715 | 50368;50369;50370 | chr2:178568794;178568793;178568792 | chr2:179433521;179433520;179433519 |
| Novex-1 | 16840 | 50743;50744;50745 | chr2:178568794;178568793;178568792 | chr2:179433521;179433520;179433519 |
| Novex-2 | 16907 | 50944;50945;50946 | chr2:178568794;178568793;178568792 | chr2:179433521;179433520;179433519 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs555798738  |
-1.54 | 0.998 | D | 0.74 | 0.353 | 0.469333501611 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs555798738 |
-1.54 | 0.998 | D | 0.74 | 0.353 | 0.469333501611 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs555798738 |
-1.54 | 0.998 | D | 0.74 | 0.353 | 0.469333501611 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/N | rs555798738 |
-1.54 | 0.998 | D | 0.74 | 0.353 | 0.469333501611 | gnomAD-4.0.0 | 6.57108E-06 | None | None | None | None | N | None | 0 | 6.55222E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6329 | likely_pathogenic | 0.5695 | pathogenic | -0.752 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/C | 0.8612 | likely_pathogenic | 0.8148 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.546649868 | None | None | N |
| S/D | 0.9939 | likely_pathogenic | 0.9921 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| S/E | 0.9974 | likely_pathogenic | 0.997 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| S/F | 0.9981 | likely_pathogenic | 0.9972 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| S/G | 0.2564 | likely_benign | 0.2102 | benign | -1.086 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.469233699 | None | None | N |
| S/H | 0.9955 | likely_pathogenic | 0.9939 | pathogenic | -1.498 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| S/I | 0.996 | likely_pathogenic | 0.995 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.895 | deleterious | D | 0.535040073 | None | None | N |
| S/K | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| S/L | 0.983 | likely_pathogenic | 0.9761 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| S/M | 0.9867 | likely_pathogenic | 0.9831 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/N | 0.9781 | likely_pathogenic | 0.9702 | pathogenic | -1.29 | Destabilizing | 0.998 | D | 0.74 | deleterious | D | 0.54563591 | None | None | N |
| S/P | 0.9975 | likely_pathogenic | 0.9966 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| S/Q | 0.9962 | likely_pathogenic | 0.9954 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| S/R | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.534533094 | None | None | N |
| S/T | 0.8484 | likely_pathogenic | 0.8236 | pathogenic | -1.049 | Destabilizing | 0.988 | D | 0.747 | deleterious | D | 0.533265646 | None | None | N |
| S/V | 0.9933 | likely_pathogenic | 0.9918 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| S/W | 0.9976 | likely_pathogenic | 0.9971 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| S/Y | 0.9962 | likely_pathogenic | 0.9948 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.897 | 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.