Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9570 | 28933;28934;28935 | chr2:178709611;178709610;178709609 | chr2:179574338;179574337;179574336 |
| N2AB | 9253 | 27982;27983;27984 | chr2:178709611;178709610;178709609 | chr2:179574338;179574337;179574336 |
| N2A | 8326 | 25201;25202;25203 | chr2:178709611;178709610;178709609 | chr2:179574338;179574337;179574336 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs748118078  |
-2.035 | 0.999 | None | 0.637 | 0.621 | 0.380394304726 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| N/D | rs748118078 |
-2.035 | 0.999 | None | 0.637 | 0.621 | 0.380394304726 | gnomAD-4.0.0 | 1.59131E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.8826E-05 | 0 | 0 | 0 | 0 |
| N/S | rs727503641 |
-0.195 | 0.999 | None | 0.599 | 0.557 | 0.30212335484 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.87E-06 | 0 |
| N/S | rs727503641 |
-0.195 | 0.999 | None | 0.599 | 0.557 | 0.30212335484 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| N/S | rs727503641 |
-0.195 | 0.999 | None | 0.599 | 0.557 | 0.30212335484 | gnomAD-4.0.0 | 1.30131E-05 | None | None | None | None | I | None | 1.33454E-05 | 1.66667E-05 | None | 0 | 0 | None | 0 | 0 | 1.18667E-05 | 5.48908E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9752 | likely_pathogenic | 0.9824 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| N/C | 0.9058 | likely_pathogenic | 0.919 | pathogenic | 0.01 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| N/D | 0.9307 | likely_pathogenic | 0.9547 | pathogenic | -1.253 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | I |
| N/E | 0.9958 | likely_pathogenic | 0.9972 | pathogenic | -1.229 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | I |
| N/F | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| N/G | 0.9356 | likely_pathogenic | 0.9494 | pathogenic | -0.754 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | I |
| N/H | 0.9295 | likely_pathogenic | 0.9574 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| N/I | 0.9859 | likely_pathogenic | 0.9914 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| N/K | 0.9943 | likely_pathogenic | 0.997 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| N/L | 0.9624 | likely_pathogenic | 0.975 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| N/M | 0.984 | likely_pathogenic | 0.9897 | pathogenic | 0.642 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| N/P | 0.9923 | likely_pathogenic | 0.9941 | pathogenic | -0.16 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| N/Q | 0.9937 | likely_pathogenic | 0.9959 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| N/R | 0.9901 | likely_pathogenic | 0.9941 | pathogenic | 0.134 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| N/S | 0.4202 | ambiguous | 0.4904 | ambiguous | -0.524 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | I |
| N/T | 0.8303 | likely_pathogenic | 0.8772 | pathogenic | -0.357 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | I |
| N/V | 0.9759 | likely_pathogenic | 0.9828 | pathogenic | -0.16 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| N/W | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | I |
| N/Y | 0.9832 | likely_pathogenic | 0.9902 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.753 | 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.