Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16935 | 51028;51029;51030 | chr2:178611426;178611425;178611424 | chr2:179476153;179476152;179476151 |
| N2AB | 15294 | 46105;46106;46107 | chr2:178611426;178611425;178611424 | chr2:179476153;179476152;179476151 |
| N2A | 14367 | 43324;43325;43326 | chr2:178611426;178611425;178611424 | chr2:179476153;179476152;179476151 |
| N2B | 7870 | 23833;23834;23835 | chr2:178611426;178611425;178611424 | chr2:179476153;179476152;179476151 |
| Novex-1 | 7995 | 24208;24209;24210 | chr2:178611426;178611425;178611424 | chr2:179476153;179476152;179476151 |
| Novex-2 | 8062 | 24409;24410;24411 | chr2:178611426;178611425;178611424 | chr2:179476153;179476152;179476151 |
| 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/S | None | None | 1.0 | D | 0.856 | 0.719 | 0.533904276971 | gnomAD-4.0.0 | 6.8457E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99797E-07 | 0 | 0 |
| G/V | rs2056305548  |
None | 1.0 | D | 0.889 | 0.677 | 0.923650413606 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs2056305548 |
None | 1.0 | D | 0.889 | 0.677 | 0.923650413606 | gnomAD-4.0.0 | 6.57947E-06 | None | None | None | None | I | None | 2.41371E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7721 | likely_pathogenic | 0.903 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.792621454 | None | None | I |
| G/C | 0.9515 | likely_pathogenic | 0.9802 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.795796196 | None | None | I |
| G/D | 0.97 | likely_pathogenic | 0.9864 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.69027197 | None | None | I |
| G/E | 0.9866 | likely_pathogenic | 0.994 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| G/F | 0.9954 | likely_pathogenic | 0.9975 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | I |
| G/H | 0.9929 | likely_pathogenic | 0.9972 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/I | 0.9934 | likely_pathogenic | 0.9974 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | I |
| G/K | 0.9945 | likely_pathogenic | 0.9975 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/L | 0.9888 | likely_pathogenic | 0.995 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/M | 0.994 | likely_pathogenic | 0.9978 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/N | 0.9797 | likely_pathogenic | 0.9909 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.9994 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| G/Q | 0.9868 | likely_pathogenic | 0.9944 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | I |
| G/R | 0.9807 | likely_pathogenic | 0.9905 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.71064836 | None | None | I |
| G/S | 0.7673 | likely_pathogenic | 0.8786 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.757761907 | None | None | I |
| G/T | 0.9565 | likely_pathogenic | 0.9811 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/V | 0.9842 | likely_pathogenic | 0.9936 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.723000174 | None | None | I |
| G/W | 0.9921 | likely_pathogenic | 0.9962 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/Y | 0.9928 | likely_pathogenic | 0.9969 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.895 | 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.