Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21119 | 63580;63581;63582 | chr2:178588052;178588051;178588050 | chr2:179452779;179452778;179452777 |
| N2AB | 19478 | 58657;58658;58659 | chr2:178588052;178588051;178588050 | chr2:179452779;179452778;179452777 |
| N2A | 18551 | 55876;55877;55878 | chr2:178588052;178588051;178588050 | chr2:179452779;179452778;179452777 |
| N2B | 12054 | 36385;36386;36387 | chr2:178588052;178588051;178588050 | chr2:179452779;179452778;179452777 |
| Novex-1 | 12179 | 36760;36761;36762 | chr2:178588052;178588051;178588050 | chr2:179452779;179452778;179452777 |
| Novex-2 | 12246 | 36961;36962;36963 | chr2:178588052;178588051;178588050 | chr2:179452779;179452778;179452777 |
| 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/S | None | None | 0.997 | N | 0.565 | 0.308 | 0.526129947372 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/Y | rs577266000  |
-1.327 | 0.999 | N | 0.692 | 0.27 | 0.562466211253 | 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 |
| C/Y | rs577266000 |
-1.327 | 0.999 | N | 0.692 | 0.27 | 0.562466211253 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/Y | rs577266000 |
-1.327 | 0.999 | N | 0.692 | 0.27 | 0.562466211253 | gnomAD-4.0.0 | 1.116E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52624E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6293 | likely_pathogenic | 0.6267 | pathogenic | -2.093 | Highly Destabilizing | 0.982 | D | 0.51 | neutral | None | None | None | None | N |
| C/D | 0.9636 | likely_pathogenic | 0.9618 | pathogenic | -0.742 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| C/E | 0.9681 | likely_pathogenic | 0.9647 | pathogenic | -0.605 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| C/F | 0.5107 | ambiguous | 0.5054 | ambiguous | -1.359 | Destabilizing | 0.997 | D | 0.681 | prob.neutral | N | 0.458473137 | None | None | N |
| C/G | 0.536 | ambiguous | 0.5318 | ambiguous | -2.427 | Highly Destabilizing | 0.999 | D | 0.674 | neutral | N | 0.467627396 | None | None | N |
| C/H | 0.9005 | likely_pathogenic | 0.8909 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| C/I | 0.4865 | ambiguous | 0.4691 | ambiguous | -1.21 | Destabilizing | 0.469 | N | 0.285 | neutral | None | None | None | None | N |
| C/K | 0.9657 | likely_pathogenic | 0.9598 | pathogenic | -1.329 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| C/L | 0.5817 | likely_pathogenic | 0.5783 | pathogenic | -1.21 | Destabilizing | 0.931 | D | 0.459 | neutral | None | None | None | None | N |
| C/M | 0.7556 | likely_pathogenic | 0.7553 | pathogenic | -0.01 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | None | None | None | None | N |
| C/N | 0.8832 | likely_pathogenic | 0.8762 | pathogenic | -1.475 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| C/P | 0.9407 | likely_pathogenic | 0.921 | pathogenic | -1.481 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| C/Q | 0.9198 | likely_pathogenic | 0.9132 | pathogenic | -1.293 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | N |
| C/R | 0.8728 | likely_pathogenic | 0.8589 | pathogenic | -1.168 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | N | 0.473614877 | None | None | N |
| C/S | 0.6552 | likely_pathogenic | 0.6385 | pathogenic | -2.032 | Highly Destabilizing | 0.997 | D | 0.565 | neutral | N | 0.460283562 | None | None | N |
| C/T | 0.7334 | likely_pathogenic | 0.7011 | pathogenic | -1.704 | Destabilizing | 0.993 | D | 0.564 | neutral | None | None | None | None | N |
| C/V | 0.3829 | ambiguous | 0.3614 | ambiguous | -1.481 | Destabilizing | 0.931 | D | 0.461 | neutral | None | None | None | None | N |
| C/W | 0.8302 | likely_pathogenic | 0.8226 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.497341446 | None | None | N |
| C/Y | 0.6903 | likely_pathogenic | 0.6848 | pathogenic | -1.384 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | N | 0.467120417 | 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.