Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18952 | 57079;57080;57081 | chr2:178598856;178598855;178598854 | chr2:179463583;179463582;179463581 |
| N2AB | 17311 | 52156;52157;52158 | chr2:178598856;178598855;178598854 | chr2:179463583;179463582;179463581 |
| N2A | 16384 | 49375;49376;49377 | chr2:178598856;178598855;178598854 | chr2:179463583;179463582;179463581 |
| N2B | 9887 | 29884;29885;29886 | chr2:178598856;178598855;178598854 | chr2:179463583;179463582;179463581 |
| Novex-1 | 10012 | 30259;30260;30261 | chr2:178598856;178598855;178598854 | chr2:179463583;179463582;179463581 |
| Novex-2 | 10079 | 30460;30461;30462 | chr2:178598856;178598855;178598854 | chr2:179463583;179463582;179463581 |
| 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 | rs766126662  |
-0.276 | 1.0 | N | 0.749 | 0.504 | 0.393775345888 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 2.32072E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs766126662 |
-0.276 | 1.0 | N | 0.749 | 0.504 | 0.393775345888 | gnomAD-4.0.0 | 4.79067E-06 | None | None | None | None | N | None | 0 | 1.56593E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs762735652 |
-0.001 | 1.0 | D | 0.749 | 0.53 | 0.586023110755 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/V | rs762735652 |
-0.001 | 1.0 | D | 0.749 | 0.53 | 0.586023110755 | gnomAD-4.0.0 | 1.02657E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.34946E-05 | 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 | 0.3239 | likely_benign | 0.3407 | ambiguous | -0.325 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.504256975 | None | None | N |
| G/C | 0.5256 | ambiguous | 0.5305 | ambiguous | -0.916 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.539757923 | None | None | N |
| G/D | 0.3198 | likely_benign | 0.397 | ambiguous | -0.458 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.506035153 | None | None | N |
| G/E | 0.5226 | ambiguous | 0.6046 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/F | 0.9207 | likely_pathogenic | 0.9158 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/H | 0.6797 | likely_pathogenic | 0.6872 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/I | 0.8837 | likely_pathogenic | 0.8571 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/K | 0.8776 | likely_pathogenic | 0.8667 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/L | 0.8442 | likely_pathogenic | 0.8336 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/M | 0.8357 | likely_pathogenic | 0.8328 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/N | 0.2294 | likely_benign | 0.3031 | benign | -0.498 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/P | 0.972 | likely_pathogenic | 0.965 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/Q | 0.6455 | likely_pathogenic | 0.6701 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/R | 0.8029 | likely_pathogenic | 0.7772 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.481139517 | None | None | N |
| G/S | 0.1274 | likely_benign | 0.1512 | benign | -0.685 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.484885273 | None | None | N |
| G/T | 0.4216 | ambiguous | 0.4143 | ambiguous | -0.746 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| G/V | 0.781 | likely_pathogenic | 0.743 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.527730055 | None | None | N |
| G/W | 0.8722 | likely_pathogenic | 0.8362 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/Y | 0.8182 | likely_pathogenic | 0.8063 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | 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.