Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25920 | 77983;77984;77985 | chr2:178568374;178568373;178568372 | chr2:179433101;179433100;179433099 |
| N2AB | 24279 | 73060;73061;73062 | chr2:178568374;178568373;178568372 | chr2:179433101;179433100;179433099 |
| N2A | 23352 | 70279;70280;70281 | chr2:178568374;178568373;178568372 | chr2:179433101;179433100;179433099 |
| N2B | 16855 | 50788;50789;50790 | chr2:178568374;178568373;178568372 | chr2:179433101;179433100;179433099 |
| Novex-1 | 16980 | 51163;51164;51165 | chr2:178568374;178568373;178568372 | chr2:179433101;179433100;179433099 |
| Novex-2 | 17047 | 51364;51365;51366 | chr2:178568374;178568373;178568372 | chr2:179433101;179433100;179433099 |
| 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 | rs1215844222  |
0.08 | 1.0 | N | 0.622 | 0.498 | 0.461583377977 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs1215844222 |
0.08 | 1.0 | N | 0.622 | 0.498 | 0.461583377977 | gnomAD-4.0.0 | 1.59247E-06 | None | None | None | None | I | None | 0 | 2.28885E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | None | None | 1.0 | N | 0.694 | 0.578 | 0.566372544126 | gnomAD-4.0.0 | 1.59247E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85994E-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 | 0.8665 | likely_pathogenic | 0.9154 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.622 | neutral | N | 0.505988041 | None | None | I |
| G/C | 0.9335 | likely_pathogenic | 0.9613 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.532134146 | None | None | I |
| G/D | 0.9716 | likely_pathogenic | 0.9842 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.519599299 | None | None | I |
| G/E | 0.9837 | likely_pathogenic | 0.9918 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/F | 0.9885 | likely_pathogenic | 0.9933 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/H | 0.9818 | likely_pathogenic | 0.9906 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/I | 0.9842 | likely_pathogenic | 0.9911 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/K | 0.9864 | likely_pathogenic | 0.9931 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/L | 0.983 | likely_pathogenic | 0.9893 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9891 | likely_pathogenic | 0.9938 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/N | 0.9393 | likely_pathogenic | 0.9632 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| G/P | 0.9972 | likely_pathogenic | 0.9982 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/Q | 0.9735 | likely_pathogenic | 0.9866 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/R | 0.9634 | likely_pathogenic | 0.9804 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.51475068 | None | None | I |
| G/S | 0.7165 | likely_pathogenic | 0.8248 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.504720593 | None | None | I |
| G/T | 0.9565 | likely_pathogenic | 0.9768 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/V | 0.9765 | likely_pathogenic | 0.9866 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.553832799 | None | None | I |
| G/W | 0.985 | likely_pathogenic | 0.9908 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/Y | 0.9805 | likely_pathogenic | 0.9889 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.772 | 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.