Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20643 | 62152;62153;62154 | chr2:178589798;178589797;178589796 | chr2:179454525;179454524;179454523 |
| N2AB | 19002 | 57229;57230;57231 | chr2:178589798;178589797;178589796 | chr2:179454525;179454524;179454523 |
| N2A | 18075 | 54448;54449;54450 | chr2:178589798;178589797;178589796 | chr2:179454525;179454524;179454523 |
| N2B | 11578 | 34957;34958;34959 | chr2:178589798;178589797;178589796 | chr2:179454525;179454524;179454523 |
| Novex-1 | 11703 | 35332;35333;35334 | chr2:178589798;178589797;178589796 | chr2:179454525;179454524;179454523 |
| Novex-2 | 11770 | 35533;35534;35535 | chr2:178589798;178589797;178589796 | chr2:179454525;179454524;179454523 |
| 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/R | None | None | 0.994 | N | 0.845 | 0.49 | 0.477917065107 | 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/S | None | None | 0.489 | N | 0.555 | 0.348 | 0.518752145996 | gnomAD-4.0.0 | 6.843E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 0 |
| C/Y | rs879181408  |
-1.625 | 0.998 | N | 0.817 | 0.381 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs879181408 |
-1.625 | 0.998 | N | 0.817 | 0.381 | None | 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 |
| C/Y | rs879181408 |
-1.625 | 0.998 | N | 0.817 | 0.381 | None | gnomAD-4.0.0 | 6.19783E-06 | None | None | None | None | N | None | 1.33515E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.62954E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4472 | ambiguous | 0.4971 | ambiguous | -1.659 | Destabilizing | 0.871 | D | 0.643 | neutral | None | None | None | None | N |
| C/D | 0.975 | likely_pathogenic | 0.9806 | pathogenic | -1.793 | Destabilizing | 0.991 | D | 0.799 | deleterious | None | None | None | None | N |
| C/E | 0.9763 | likely_pathogenic | 0.9796 | pathogenic | -1.576 | Destabilizing | 0.991 | D | 0.825 | deleterious | None | None | None | None | N |
| C/F | 0.645 | likely_pathogenic | 0.675 | pathogenic | -1.039 | Destabilizing | 0.998 | D | 0.799 | deleterious | N | 0.426704791 | None | None | N |
| C/G | 0.46 | ambiguous | 0.5088 | ambiguous | -1.981 | Destabilizing | 0.961 | D | 0.782 | deleterious | N | 0.521327106 | None | None | N |
| C/H | 0.8594 | likely_pathogenic | 0.8875 | pathogenic | -2.261 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| C/I | 0.8195 | likely_pathogenic | 0.8273 | pathogenic | -0.794 | Destabilizing | 0.996 | D | 0.758 | deleterious | None | None | None | None | N |
| C/K | 0.9583 | likely_pathogenic | 0.9722 | pathogenic | -1.445 | Destabilizing | 0.991 | D | 0.793 | deleterious | None | None | None | None | N |
| C/L | 0.724 | likely_pathogenic | 0.7574 | pathogenic | -0.794 | Destabilizing | 0.985 | D | 0.714 | prob.delet. | None | None | None | None | N |
| C/M | 0.7649 | likely_pathogenic | 0.7946 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| C/N | 0.8472 | likely_pathogenic | 0.8743 | pathogenic | -1.911 | Destabilizing | 0.991 | D | 0.825 | deleterious | None | None | None | None | N |
| C/P | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -1.061 | Destabilizing | 0.996 | D | 0.852 | deleterious | None | None | None | None | N |
| C/Q | 0.8527 | likely_pathogenic | 0.8824 | pathogenic | -1.485 | Destabilizing | 0.996 | D | 0.858 | deleterious | None | None | None | None | N |
| C/R | 0.8166 | likely_pathogenic | 0.8658 | pathogenic | -1.779 | Destabilizing | 0.994 | D | 0.845 | deleterious | N | 0.356919419 | None | None | N |
| C/S | 0.3439 | ambiguous | 0.4029 | ambiguous | -2.193 | Highly Destabilizing | 0.489 | N | 0.555 | neutral | N | 0.363866821 | None | None | N |
| C/T | 0.558 | ambiguous | 0.608 | pathogenic | -1.815 | Destabilizing | 0.942 | D | 0.737 | prob.delet. | None | None | None | None | N |
| C/V | 0.685 | likely_pathogenic | 0.7076 | pathogenic | -1.061 | Destabilizing | 0.985 | D | 0.744 | deleterious | None | None | None | None | N |
| C/W | 0.9325 | likely_pathogenic | 0.9345 | pathogenic | -1.504 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.502818703 | None | None | N |
| C/Y | 0.813 | likely_pathogenic | 0.8222 | pathogenic | -1.273 | Destabilizing | 0.998 | D | 0.817 | deleterious | N | 0.443789042 | 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.