Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25000 | 75223;75224;75225 | chr2:178571134;178571133;178571132 | chr2:179435861;179435860;179435859 |
| N2AB | 23359 | 70300;70301;70302 | chr2:178571134;178571133;178571132 | chr2:179435861;179435860;179435859 |
| N2A | 22432 | 67519;67520;67521 | chr2:178571134;178571133;178571132 | chr2:179435861;179435860;179435859 |
| N2B | 15935 | 48028;48029;48030 | chr2:178571134;178571133;178571132 | chr2:179435861;179435860;179435859 |
| Novex-1 | 16060 | 48403;48404;48405 | chr2:178571134;178571133;178571132 | chr2:179435861;179435860;179435859 |
| Novex-2 | 16127 | 48604;48605;48606 | chr2:178571134;178571133;178571132 | chr2:179435861;179435860;179435859 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | rs1399533944  |
-1.064 | 0.162 | N | 0.689 | 0.149 | 0.614824676058 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs1399533944 |
-1.064 | 0.162 | N | 0.689 | 0.149 | 0.614824676058 | gnomAD-4.0.0 | 1.59201E-06 | None | None | None | None | N | None | 0 | 2.28676E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.2192 | likely_benign | 0.1725 | benign | -1.577 | Destabilizing | 0.003 | N | 0.234 | neutral | None | None | None | None | N |
| C/D | 0.5809 | likely_pathogenic | 0.5286 | ambiguous | -0.045 | Destabilizing | 0.018 | N | 0.663 | prob.neutral | None | None | None | None | N |
| C/E | 0.6714 | likely_pathogenic | 0.6432 | pathogenic | 0.024 | Stabilizing | 0.018 | N | 0.651 | prob.neutral | None | None | None | None | N |
| C/F | 0.1693 | likely_benign | 0.1607 | benign | -0.954 | Destabilizing | 0.026 | N | 0.644 | neutral | N | 0.445226263 | None | None | N |
| C/G | 0.0964 | likely_benign | 0.0833 | benign | -1.857 | Destabilizing | 0.013 | N | 0.482 | neutral | N | 0.44018859 | None | None | N |
| C/H | 0.4012 | ambiguous | 0.3907 | ambiguous | -1.752 | Destabilizing | 0.204 | N | 0.584 | neutral | None | None | None | None | N |
| C/I | 0.2889 | likely_benign | 0.2683 | benign | -0.873 | Destabilizing | None | N | 0.165 | neutral | None | None | None | None | N |
| C/K | 0.5945 | likely_pathogenic | 0.617 | pathogenic | -0.826 | Destabilizing | 0.018 | N | 0.613 | neutral | None | None | None | None | N |
| C/L | 0.2648 | likely_benign | 0.2683 | benign | -0.873 | Destabilizing | None | N | 0.175 | neutral | None | None | None | None | N |
| C/M | 0.4231 | ambiguous | 0.3877 | ambiguous | -0.065 | Destabilizing | 0.001 | N | 0.258 | neutral | None | None | None | None | N |
| C/N | 0.2919 | likely_benign | 0.2334 | benign | -0.663 | Destabilizing | 0.018 | N | 0.667 | prob.neutral | None | None | None | None | N |
| C/P | 0.2718 | likely_benign | 0.2203 | benign | -1.081 | Destabilizing | 0.112 | N | 0.699 | prob.delet. | None | None | None | None | N |
| C/Q | 0.4787 | ambiguous | 0.4735 | ambiguous | -0.648 | Destabilizing | 0.112 | N | 0.679 | prob.neutral | None | None | None | None | N |
| C/R | 0.3324 | likely_benign | 0.3723 | ambiguous | -0.579 | Destabilizing | 0.087 | N | 0.693 | prob.delet. | N | 0.442516819 | None | None | N |
| C/S | 0.1786 | likely_benign | 0.1261 | benign | -1.258 | Destabilizing | None | N | 0.207 | neutral | N | 0.372771519 | None | None | N |
| C/T | 0.2815 | likely_benign | 0.2231 | benign | -1.017 | Destabilizing | 0.007 | N | 0.333 | neutral | None | None | None | None | N |
| C/V | 0.2589 | likely_benign | 0.2369 | benign | -1.081 | Destabilizing | 0.003 | N | 0.238 | neutral | None | None | None | None | N |
| C/W | 0.4034 | ambiguous | 0.385 | ambiguous | -0.888 | Destabilizing | 0.69 | D | 0.596 | neutral | N | 0.470338138 | None | None | N |
| C/Y | 0.1981 | likely_benign | 0.1824 | benign | -0.895 | Destabilizing | 0.162 | N | 0.689 | prob.delet. | N | 0.463276093 | 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.