Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25197 | 75814;75815;75816 | chr2:178570543;178570542;178570541 | chr2:179435270;179435269;179435268 |
| N2AB | 23556 | 70891;70892;70893 | chr2:178570543;178570542;178570541 | chr2:179435270;179435269;179435268 |
| N2A | 22629 | 68110;68111;68112 | chr2:178570543;178570542;178570541 | chr2:179435270;179435269;179435268 |
| N2B | 16132 | 48619;48620;48621 | chr2:178570543;178570542;178570541 | chr2:179435270;179435269;179435268 |
| Novex-1 | 16257 | 48994;48995;48996 | chr2:178570543;178570542;178570541 | chr2:179435270;179435269;179435268 |
| Novex-2 | 16324 | 49195;49196;49197 | chr2:178570543;178570542;178570541 | chr2:179435270;179435269;179435268 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs559521606  |
-0.746 | 0.497 | N | 0.685 | 0.316 | 0.411265580357 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 8.93E-06 | 0 |
| V/M | rs559521606 |
-0.746 | 0.497 | N | 0.685 | 0.316 | 0.411265580357 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| V/M | rs559521606 |
-0.746 | 0.497 | N | 0.685 | 0.316 | 0.411265580357 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/M | rs559521606 |
-0.746 | 0.497 | N | 0.685 | 0.316 | 0.411265580357 | gnomAD-4.0.0 | 7.69057E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18246E-06 | 2.68104E-05 | 2.84544E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4442 | ambiguous | 0.5309 | ambiguous | -2.151 | Highly Destabilizing | 0.104 | N | 0.607 | neutral | D | 0.525821354 | None | None | N |
| V/C | 0.74 | likely_pathogenic | 0.7716 | pathogenic | -1.914 | Destabilizing | 0.968 | D | 0.699 | prob.neutral | None | None | None | None | N |
| V/D | 0.9778 | likely_pathogenic | 0.9858 | pathogenic | -2.342 | Highly Destabilizing | 0.726 | D | 0.795 | deleterious | None | None | None | None | N |
| V/E | 0.9524 | likely_pathogenic | 0.9692 | pathogenic | -2.179 | Highly Destabilizing | 0.667 | D | 0.745 | deleterious | D | 0.539808646 | None | None | N |
| V/F | 0.2981 | likely_benign | 0.3071 | benign | -1.423 | Destabilizing | 0.567 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/G | 0.6876 | likely_pathogenic | 0.7665 | pathogenic | -2.664 | Highly Destabilizing | 0.667 | D | 0.77 | deleterious | N | 0.50573973 | None | None | N |
| V/H | 0.9589 | likely_pathogenic | 0.9714 | pathogenic | -2.267 | Highly Destabilizing | 0.968 | D | 0.781 | deleterious | None | None | None | None | N |
| V/I | 0.0778 | likely_benign | 0.0736 | benign | -0.75 | Destabilizing | None | N | 0.198 | neutral | None | None | None | None | N |
| V/K | 0.9422 | likely_pathogenic | 0.9663 | pathogenic | -1.865 | Destabilizing | 0.726 | D | 0.745 | deleterious | None | None | None | None | N |
| V/L | 0.2402 | likely_benign | 0.2532 | benign | -0.75 | Destabilizing | 0.009 | N | 0.451 | neutral | D | 0.525765425 | None | None | N |
| V/M | 0.2099 | likely_benign | 0.2295 | benign | -0.775 | Destabilizing | 0.497 | N | 0.685 | prob.neutral | N | 0.509841107 | None | None | N |
| V/N | 0.9157 | likely_pathogenic | 0.9391 | pathogenic | -2.025 | Highly Destabilizing | 0.89 | D | 0.807 | deleterious | None | None | None | None | N |
| V/P | 0.9751 | likely_pathogenic | 0.9814 | pathogenic | -1.186 | Destabilizing | 0.89 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/Q | 0.9152 | likely_pathogenic | 0.9431 | pathogenic | -1.959 | Destabilizing | 0.89 | D | 0.74 | deleterious | None | None | None | None | N |
| V/R | 0.904 | likely_pathogenic | 0.9388 | pathogenic | -1.559 | Destabilizing | 0.726 | D | 0.807 | deleterious | None | None | None | None | N |
| V/S | 0.7464 | likely_pathogenic | 0.8159 | pathogenic | -2.712 | Highly Destabilizing | 0.726 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/T | 0.5836 | likely_pathogenic | 0.682 | pathogenic | -2.393 | Highly Destabilizing | 0.272 | N | 0.686 | prob.neutral | None | None | None | None | N |
| V/W | 0.9341 | likely_pathogenic | 0.946 | pathogenic | -1.782 | Destabilizing | 0.968 | D | 0.766 | deleterious | None | None | None | None | N |
| V/Y | 0.8291 | likely_pathogenic | 0.8524 | pathogenic | -1.452 | Destabilizing | 0.726 | D | 0.713 | 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.