Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8524 | 25795;25796;25797 | chr2:178717164;178717163;178717162 | chr2:179581891;179581890;179581889 |
| N2AB | 8207 | 24844;24845;24846 | chr2:178717164;178717163;178717162 | chr2:179581891;179581890;179581889 |
| N2A | 7280 | 22063;22064;22065 | chr2:178717164;178717163;178717162 | chr2:179581891;179581890;179581889 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/R | rs371512914  |
-0.397 | 1.0 | D | 0.863 | 0.817 | 0.886815157614 | gnomAD-2.1.1 | 6.07E-05 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 5.13E-05 | None | 0 | None | 4E-05 | 1.09387E-04 | 0 |
| G/R | rs371512914 |
-0.397 | 1.0 | D | 0.863 | 0.817 | 0.886815157614 | gnomAD-3.1.2 | 9.86E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 1.47007E-04 | 2.07469E-04 | 0 |
| G/R | rs371512914 |
-0.397 | 1.0 | D | 0.863 | 0.817 | 0.886815157614 | gnomAD-4.0.0 | 6.63184E-05 | None | None | None | None | I | None | 8.01303E-05 | 1.66761E-05 | None | 0 | 0 | None | 3.1252E-05 | 0 | 7.62936E-05 | 1.09815E-05 | 1.12118E-04 |
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 | 0.4797 | ambiguous | 0.4186 | ambiguous | -0.793 | Destabilizing | 0.175 | N | 0.581 | neutral | D | 0.57261225 | None | None | I |
| G/C | 0.9164 | likely_pathogenic | 0.896 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/D | 0.978 | likely_pathogenic | 0.9689 | pathogenic | -1.387 | Destabilizing | 0.997 | D | 0.861 | deleterious | None | None | None | None | I |
| G/E | 0.983 | likely_pathogenic | 0.9775 | pathogenic | -1.383 | Destabilizing | 0.998 | D | 0.863 | deleterious | D | 0.661106266 | None | None | I |
| G/F | 0.9881 | likely_pathogenic | 0.9858 | pathogenic | -1.04 | Destabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | None | I |
| G/H | 0.9897 | likely_pathogenic | 0.987 | pathogenic | -1.507 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/I | 0.9861 | likely_pathogenic | 0.985 | pathogenic | -0.205 | Destabilizing | 0.986 | D | 0.837 | deleterious | None | None | None | None | I |
| G/K | 0.9921 | likely_pathogenic | 0.9905 | pathogenic | -1.203 | Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | I |
| G/L | 0.9766 | likely_pathogenic | 0.9712 | pathogenic | -0.205 | Destabilizing | 0.995 | D | 0.837 | deleterious | None | None | None | None | I |
| G/M | 0.986 | likely_pathogenic | 0.9817 | pathogenic | -0.217 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | I |
| G/N | 0.9791 | likely_pathogenic | 0.9695 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -0.358 | Destabilizing | 0.997 | D | 0.859 | deleterious | None | None | None | None | I |
| G/Q | 0.9748 | likely_pathogenic | 0.9673 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/R | 0.9691 | likely_pathogenic | 0.9624 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.660904462 | None | None | I |
| G/S | 0.5544 | ambiguous | 0.4802 | ambiguous | -1.368 | Destabilizing | 0.973 | D | 0.832 | deleterious | None | None | None | None | I |
| G/T | 0.946 | likely_pathogenic | 0.9276 | pathogenic | -1.27 | Destabilizing | 0.998 | D | 0.854 | deleterious | None | None | None | None | I |
| G/V | 0.96 | likely_pathogenic | 0.9555 | pathogenic | -0.358 | Destabilizing | 0.395 | N | 0.751 | deleterious | D | 0.661106266 | None | None | I |
| G/W | 0.9883 | likely_pathogenic | 0.9868 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.66130807 | None | None | I |
| G/Y | 0.9893 | likely_pathogenic | 0.9866 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.854 | 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.