Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24880 | 74863;74864;74865 | chr2:178571494;178571493;178571492 | chr2:179436221;179436220;179436219 |
| N2AB | 23239 | 69940;69941;69942 | chr2:178571494;178571493;178571492 | chr2:179436221;179436220;179436219 |
| N2A | 22312 | 67159;67160;67161 | chr2:178571494;178571493;178571492 | chr2:179436221;179436220;179436219 |
| N2B | 15815 | 47668;47669;47670 | chr2:178571494;178571493;178571492 | chr2:179436221;179436220;179436219 |
| Novex-1 | 15940 | 48043;48044;48045 | chr2:178571494;178571493;178571492 | chr2:179436221;179436220;179436219 |
| Novex-2 | 16007 | 48244;48245;48246 | chr2:178571494;178571493;178571492 | chr2:179436221;179436220;179436219 |
| 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/H | rs755733728  |
-2.02 | 0.99 | N | 0.622 | 0.324 | 0.430351802785 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| Q/H | rs755733728 |
-2.02 | 0.99 | N | 0.622 | 0.324 | 0.430351802785 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| Q/H | rs755733728 |
-2.02 | 0.99 | N | 0.622 | 0.324 | 0.430351802785 | gnomAD-4.0.0 | 6.81882E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20781E-04 | 0 |
| Q/P | None | None | 0.99 | N | 0.663 | 0.455 | 0.568180043242 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5053 | ambiguous | 0.5012 | ambiguous | -1.452 | Destabilizing | 0.559 | D | 0.628 | neutral | None | None | None | None | N |
| Q/C | 0.8217 | likely_pathogenic | 0.8183 | pathogenic | -0.796 | Destabilizing | 0.998 | D | 0.777 | deleterious | None | None | None | None | N |
| Q/D | 0.9273 | likely_pathogenic | 0.9271 | pathogenic | -2.06 | Highly Destabilizing | 0.974 | D | 0.615 | neutral | None | None | None | None | N |
| Q/E | 0.1878 | likely_benign | 0.188 | benign | -1.765 | Destabilizing | 0.795 | D | 0.637 | neutral | N | 0.481517924 | None | None | N |
| Q/F | 0.8851 | likely_pathogenic | 0.882 | pathogenic | -0.916 | Destabilizing | 0.956 | D | 0.781 | deleterious | None | None | None | None | N |
| Q/G | 0.8079 | likely_pathogenic | 0.7873 | pathogenic | -1.884 | Destabilizing | 0.926 | D | 0.652 | neutral | None | None | None | None | N |
| Q/H | 0.6428 | likely_pathogenic | 0.6773 | pathogenic | -1.359 | Destabilizing | 0.99 | D | 0.622 | neutral | N | 0.470318828 | None | None | N |
| Q/I | 0.3576 | ambiguous | 0.3661 | ambiguous | -0.256 | Destabilizing | 0.754 | D | 0.687 | prob.neutral | None | None | None | None | N |
| Q/K | 0.5204 | ambiguous | 0.5194 | ambiguous | -0.531 | Destabilizing | 0.904 | D | 0.663 | neutral | N | 0.497084809 | None | None | N |
| Q/L | 0.3041 | likely_benign | 0.3028 | benign | -0.256 | Destabilizing | 0.698 | D | 0.649 | neutral | N | 0.513555772 | None | None | N |
| Q/M | 0.4204 | ambiguous | 0.4211 | ambiguous | -0.078 | Destabilizing | 0.978 | D | 0.62 | neutral | None | None | None | None | N |
| Q/N | 0.7506 | likely_pathogenic | 0.7536 | pathogenic | -1.357 | Destabilizing | 0.993 | D | 0.607 | neutral | None | None | None | None | N |
| Q/P | 0.9807 | likely_pathogenic | 0.9817 | pathogenic | -0.632 | Destabilizing | 0.99 | D | 0.663 | neutral | N | 0.517656607 | None | None | N |
| Q/R | 0.4931 | ambiguous | 0.4792 | ambiguous | -0.69 | Destabilizing | 0.904 | D | 0.629 | neutral | N | 0.502010626 | None | None | N |
| Q/S | 0.4887 | ambiguous | 0.4993 | ambiguous | -1.681 | Destabilizing | 0.926 | D | 0.615 | neutral | None | None | None | None | N |
| Q/T | 0.3528 | ambiguous | 0.3752 | ambiguous | -1.202 | Destabilizing | 0.86 | D | 0.605 | neutral | None | None | None | None | N |
| Q/V | 0.2692 | likely_benign | 0.2756 | benign | -0.632 | Destabilizing | 0.019 | N | 0.556 | neutral | None | None | None | None | N |
| Q/W | 0.9183 | likely_pathogenic | 0.9185 | pathogenic | -0.932 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.7993 | likely_pathogenic | 0.798 | pathogenic | -0.57 | Destabilizing | 0.978 | D | 0.679 | 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.