Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33609 | 101050;101051;101052 | chr2:178535790;178535789;178535788 | chr2:179400517;179400516;179400515 |
| N2AB | 31968 | 96127;96128;96129 | chr2:178535790;178535789;178535788 | chr2:179400517;179400516;179400515 |
| N2A | 31041 | 93346;93347;93348 | chr2:178535790;178535789;178535788 | chr2:179400517;179400516;179400515 |
| N2B | 24544 | 73855;73856;73857 | chr2:178535790;178535789;178535788 | chr2:179400517;179400516;179400515 |
| Novex-1 | 24669 | 74230;74231;74232 | chr2:178535790;178535789;178535788 | chr2:179400517;179400516;179400515 |
| Novex-2 | 24736 | 74431;74432;74433 | chr2:178535790;178535789;178535788 | chr2:179400517;179400516;179400515 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/P | rs771243505  |
-0.282 | 1.0 | N | 0.703 | 0.466 | 0.262662153117 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.76E-05 | 0 | 0 |
| R/P | rs771243505 |
-0.282 | 1.0 | N | 0.703 | 0.466 | 0.262662153117 | gnomAD-4.0.0 | 6.8475E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.90172E-05 | 0 | 0 | 0 | 0 |
| R/Q | rs771243505 |
-0.355 | 1.0 | N | 0.696 | 0.33 | 0.18274738541 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 8.94E-06 | 1.66334E-04 |
| R/Q | rs771243505 |
-0.355 | 1.0 | N | 0.696 | 0.33 | 0.18274738541 | gnomAD-3.1.2 | 4.62E-05 | None | None | None | None | N | None | 4.86E-05 | 1.97083E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.79386E-04 |
| R/Q | rs771243505 |
-0.355 | 1.0 | N | 0.696 | 0.33 | 0.18274738541 | gnomAD-4.0.0 | 1.30282E-05 | None | None | None | None | N | None | 4.02059E-05 | 5.00584E-05 | None | 0 | 2.23065E-05 | None | 0 | 1.64474E-04 | 7.63055E-06 | 2.19713E-05 | 3.20369E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7149 | likely_pathogenic | 0.5737 | pathogenic | -0.326 | Destabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | N |
| R/C | 0.3856 | ambiguous | 0.2692 | benign | -0.368 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| R/D | 0.9538 | likely_pathogenic | 0.9007 | pathogenic | 0.099 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| R/E | 0.7342 | likely_pathogenic | 0.5875 | pathogenic | 0.189 | Stabilizing | 0.997 | D | 0.617 | neutral | None | None | None | None | N |
| R/F | 0.9224 | likely_pathogenic | 0.8299 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/G | 0.7204 | likely_pathogenic | 0.5627 | ambiguous | -0.576 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.454602477 | None | None | N |
| R/H | 0.2767 | likely_benign | 0.1967 | benign | -0.937 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| R/I | 0.7095 | likely_pathogenic | 0.507 | ambiguous | 0.315 | Stabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| R/K | 0.2067 | likely_benign | 0.1621 | benign | -0.311 | Destabilizing | 0.979 | D | 0.465 | neutral | None | None | None | None | N |
| R/L | 0.6087 | likely_pathogenic | 0.4471 | ambiguous | 0.315 | Stabilizing | 1.0 | D | 0.633 | neutral | N | 0.449991791 | None | None | N |
| R/M | 0.783 | likely_pathogenic | 0.613 | pathogenic | -0.073 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| R/N | 0.898 | likely_pathogenic | 0.8173 | pathogenic | 0.101 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| R/P | 0.812 | likely_pathogenic | 0.6465 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.458035271 | None | None | N |
| R/Q | 0.2078 | likely_benign | 0.1614 | benign | -0.062 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.477237107 | None | None | N |
| R/S | 0.8381 | likely_pathogenic | 0.7322 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| R/T | 0.7206 | likely_pathogenic | 0.5486 | ambiguous | -0.248 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| R/V | 0.735 | likely_pathogenic | 0.5651 | pathogenic | 0.123 | Stabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| R/W | 0.621 | likely_pathogenic | 0.4287 | ambiguous | -0.221 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| R/Y | 0.8229 | likely_pathogenic | 0.6786 | pathogenic | 0.135 | Stabilizing | 0.999 | D | 0.727 | prob.delet. | 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.