Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29858 | 89797;89798;89799 | chr2:178553328;178553327;178553326 | chr2:179418055;179418054;179418053 |
| N2AB | 28217 | 84874;84875;84876 | chr2:178553328;178553327;178553326 | chr2:179418055;179418054;179418053 |
| N2A | 27290 | 82093;82094;82095 | chr2:178553328;178553327;178553326 | chr2:179418055;179418054;179418053 |
| N2B | 20793 | 62602;62603;62604 | chr2:178553328;178553327;178553326 | chr2:179418055;179418054;179418053 |
| Novex-1 | 20918 | 62977;62978;62979 | chr2:178553328;178553327;178553326 | chr2:179418055;179418054;179418053 |
| Novex-2 | 20985 | 63178;63179;63180 | chr2:178553328;178553327;178553326 | chr2:179418055;179418054;179418053 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | None | N | 0.213 | 0.106 | 0.101711395817 | gnomAD-4.0.0 | 1.37714E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80106E-06 | 0 | 0 |
| Q/K | rs1316523481  |
0.146 | 0.012 | N | 0.449 | 0.126 | 0.0986583533028 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| Q/K | rs1316523481 |
0.146 | 0.012 | N | 0.449 | 0.126 | 0.0986583533028 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/K | rs1316523481 |
0.146 | 0.012 | N | 0.449 | 0.126 | 0.0986583533028 | gnomAD-4.0.0 | 9.97241E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35768E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2341 | likely_benign | 0.2087 | benign | -0.228 | Destabilizing | 0.031 | N | 0.398 | neutral | None | None | None | None | N |
| Q/C | 0.584 | likely_pathogenic | 0.5348 | ambiguous | 0.105 | Stabilizing | 0.864 | D | 0.449 | neutral | None | None | None | None | N |
| Q/D | 0.4697 | ambiguous | 0.3942 | ambiguous | -0.017 | Destabilizing | None | N | 0.227 | neutral | None | None | None | None | N |
| Q/E | 0.094 | likely_benign | 0.0854 | benign | -0.001 | Destabilizing | None | N | 0.213 | neutral | N | 0.38417223 | None | None | N |
| Q/F | 0.7257 | likely_pathogenic | 0.6699 | pathogenic | -0.229 | Destabilizing | 0.214 | N | 0.473 | neutral | None | None | None | None | N |
| Q/G | 0.4073 | ambiguous | 0.3498 | ambiguous | -0.478 | Destabilizing | 0.031 | N | 0.459 | neutral | None | None | None | None | N |
| Q/H | 0.1814 | likely_benign | 0.1588 | benign | -0.287 | Destabilizing | None | N | 0.29 | neutral | N | 0.435043768 | None | None | N |
| Q/I | 0.3652 | ambiguous | 0.3188 | benign | 0.357 | Stabilizing | 0.038 | N | 0.493 | neutral | None | None | None | None | N |
| Q/K | 0.0876 | likely_benign | 0.0813 | benign | -0.075 | Destabilizing | 0.012 | N | 0.449 | neutral | N | 0.396293379 | None | None | N |
| Q/L | 0.173 | likely_benign | 0.1588 | benign | 0.357 | Stabilizing | 0.012 | N | 0.464 | neutral | N | 0.40760645 | None | None | N |
| Q/M | 0.3724 | ambiguous | 0.3496 | ambiguous | 0.455 | Stabilizing | 0.356 | N | 0.467 | neutral | None | None | None | None | N |
| Q/N | 0.3314 | likely_benign | 0.2849 | benign | -0.456 | Destabilizing | 0.038 | N | 0.453 | neutral | None | None | None | None | N |
| Q/P | 0.4871 | ambiguous | 0.3877 | ambiguous | 0.192 | Stabilizing | 0.106 | N | 0.511 | neutral | N | 0.508560092 | None | None | N |
| Q/R | 0.0918 | likely_benign | 0.0882 | benign | 0.062 | Stabilizing | 0.055 | N | 0.458 | neutral | N | 0.310367905 | None | None | N |
| Q/S | 0.2439 | likely_benign | 0.2357 | benign | -0.459 | Destabilizing | 0.031 | N | 0.469 | neutral | None | None | None | None | N |
| Q/T | 0.1638 | likely_benign | 0.1511 | benign | -0.275 | Destabilizing | 0.072 | N | 0.501 | neutral | None | None | None | None | N |
| Q/V | 0.2226 | likely_benign | 0.195 | benign | 0.192 | Stabilizing | 0.001 | N | 0.316 | neutral | None | None | None | None | N |
| Q/W | 0.6362 | likely_pathogenic | 0.5338 | ambiguous | -0.205 | Destabilizing | 0.864 | D | 0.462 | neutral | None | None | None | None | N |
| Q/Y | 0.4791 | ambiguous | 0.42 | ambiguous | 0.039 | Stabilizing | 0.12 | N | 0.551 | neutral | 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.