Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27753 | 83482;83483;83484 | chr2:178562875;178562874;178562873 | chr2:179427602;179427601;179427600 |
| N2AB | 26112 | 78559;78560;78561 | chr2:178562875;178562874;178562873 | chr2:179427602;179427601;179427600 |
| N2A | 25185 | 75778;75779;75780 | chr2:178562875;178562874;178562873 | chr2:179427602;179427601;179427600 |
| N2B | 18688 | 56287;56288;56289 | chr2:178562875;178562874;178562873 | chr2:179427602;179427601;179427600 |
| Novex-1 | 18813 | 56662;56663;56664 | chr2:178562875;178562874;178562873 | chr2:179427602;179427601;179427600 |
| Novex-2 | 18880 | 56863;56864;56865 | chr2:178562875;178562874;178562873 | chr2:179427602;179427601;179427600 |
| 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/C | None | None | 1.0 | D | 0.819 | 0.709 | 0.883539022815 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| G/V | None | None | 1.0 | D | 0.849 | 0.72 | 0.918809862971 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 | 0.6599 | likely_pathogenic | 0.6856 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.609426425 | None | None | N |
| G/C | 0.8295 | likely_pathogenic | 0.841 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.642908137 | None | None | N |
| G/D | 0.9273 | likely_pathogenic | 0.9306 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.615755591 | None | None | N |
| G/E | 0.9496 | likely_pathogenic | 0.954 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/F | 0.9753 | likely_pathogenic | 0.9766 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/H | 0.9558 | likely_pathogenic | 0.9595 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/I | 0.9581 | likely_pathogenic | 0.9647 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/K | 0.95 | likely_pathogenic | 0.9573 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/L | 0.9581 | likely_pathogenic | 0.9615 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/M | 0.9697 | likely_pathogenic | 0.9742 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/N | 0.9084 | likely_pathogenic | 0.9131 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/P | 0.997 | likely_pathogenic | 0.9974 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/Q | 0.9204 | likely_pathogenic | 0.931 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| G/R | 0.89 | likely_pathogenic | 0.9041 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.641899115 | None | None | N |
| G/S | 0.5108 | ambiguous | 0.5224 | ambiguous | -0.232 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.590015675 | None | None | N |
| G/T | 0.8546 | likely_pathogenic | 0.8666 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/V | 0.9206 | likely_pathogenic | 0.9305 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.642504528 | None | None | N |
| G/W | 0.9713 | likely_pathogenic | 0.974 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/Y | 0.9677 | likely_pathogenic | 0.9689 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.849 | deleterious | 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.