Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14660 | 44203;44204;44205 | chr2:178631070;178631069;178631068 | chr2:179495797;179495796;179495795 |
| N2AB | 13019 | 39280;39281;39282 | chr2:178631070;178631069;178631068 | chr2:179495797;179495796;179495795 |
| N2A | 12092 | 36499;36500;36501 | chr2:178631070;178631069;178631068 | chr2:179495797;179495796;179495795 |
| N2B | 5595 | 17008;17009;17010 | chr2:178631070;178631069;178631068 | chr2:179495797;179495796;179495795 |
| Novex-1 | 5720 | 17383;17384;17385 | chr2:178631070;178631069;178631068 | chr2:179495797;179495796;179495795 |
| Novex-2 | 5787 | 17584;17585;17586 | chr2:178631070;178631069;178631068 | chr2:179495797;179495796;179495795 |
| 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/R | rs762795774  |
-0.016 | 0.008 | D | 0.379 | 0.252 | 0.479208069955 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/R | rs762795774 |
-0.016 | 0.008 | D | 0.379 | 0.252 | 0.479208069955 | gnomAD-4.0.0 | 1.36885E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79921E-06 | 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 | 0.2934 | likely_benign | 0.3152 | benign | -0.113 | Destabilizing | 0.007 | N | 0.294 | neutral | N | 0.483417631 | None | None | N |
| G/C | 0.5116 | ambiguous | 0.5949 | pathogenic | -0.721 | Destabilizing | 0.982 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/D | 0.3476 | ambiguous | 0.3889 | ambiguous | -0.673 | Destabilizing | 0.7 | D | 0.622 | neutral | None | None | None | None | N |
| G/E | 0.3061 | likely_benign | 0.3502 | ambiguous | -0.846 | Destabilizing | 0.468 | N | 0.656 | neutral | N | 0.499231432 | None | None | N |
| G/F | 0.7871 | likely_pathogenic | 0.8087 | pathogenic | -0.968 | Destabilizing | 0.947 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/H | 0.5948 | likely_pathogenic | 0.6757 | pathogenic | -0.372 | Destabilizing | 0.947 | D | 0.661 | neutral | None | None | None | None | N |
| G/I | 0.4649 | ambiguous | 0.4982 | ambiguous | -0.334 | Destabilizing | 0.7 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/K | 0.4712 | ambiguous | 0.5416 | ambiguous | -0.672 | Destabilizing | 0.539 | D | 0.599 | neutral | None | None | None | None | N |
| G/L | 0.6302 | likely_pathogenic | 0.6466 | pathogenic | -0.334 | Destabilizing | 0.7 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/M | 0.6963 | likely_pathogenic | 0.7251 | pathogenic | -0.371 | Destabilizing | 0.982 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/N | 0.4668 | ambiguous | 0.4964 | ambiguous | -0.253 | Destabilizing | 0.7 | D | 0.565 | neutral | None | None | None | None | N |
| G/P | 0.9333 | likely_pathogenic | 0.9462 | pathogenic | -0.23 | Destabilizing | 0.826 | D | 0.661 | neutral | None | None | None | None | N |
| G/Q | 0.404 | ambiguous | 0.4678 | ambiguous | -0.565 | Destabilizing | 0.7 | D | 0.666 | neutral | None | None | None | None | N |
| G/R | 0.2909 | likely_benign | 0.3764 | ambiguous | -0.218 | Destabilizing | 0.008 | N | 0.379 | neutral | D | 0.546298975 | None | None | N |
| G/S | 0.1704 | likely_benign | 0.1731 | benign | -0.347 | Destabilizing | 0.25 | N | 0.493 | neutral | None | None | None | None | N |
| G/T | 0.421 | ambiguous | 0.4346 | ambiguous | -0.461 | Destabilizing | 0.02 | N | 0.357 | neutral | None | None | None | None | N |
| G/V | 0.3638 | ambiguous | 0.3937 | ambiguous | -0.23 | Destabilizing | 0.638 | D | 0.699 | prob.neutral | D | 0.610661454 | None | None | N |
| G/W | 0.689 | likely_pathogenic | 0.7866 | pathogenic | -1.119 | Destabilizing | 0.976 | D | 0.68 | prob.neutral | D | 0.666674896 | None | None | N |
| G/Y | 0.7113 | likely_pathogenic | 0.7562 | pathogenic | -0.764 | Destabilizing | 0.947 | D | 0.703 | prob.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.