Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18997 | 57214;57215;57216 | chr2:178598628;178598627;178598626 | chr2:179463355;179463354;179463353 |
| N2AB | 17356 | 52291;52292;52293 | chr2:178598628;178598627;178598626 | chr2:179463355;179463354;179463353 |
| N2A | 16429 | 49510;49511;49512 | chr2:178598628;178598627;178598626 | chr2:179463355;179463354;179463353 |
| N2B | 9932 | 30019;30020;30021 | chr2:178598628;178598627;178598626 | chr2:179463355;179463354;179463353 |
| Novex-1 | 10057 | 30394;30395;30396 | chr2:178598628;178598627;178598626 | chr2:179463355;179463354;179463353 |
| Novex-2 | 10124 | 30595;30596;30597 | chr2:178598628;178598627;178598626 | chr2:179463355;179463354;179463353 |
| 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/E | None | None | 1.0 | D | 0.852 | 0.564 | 0.815021892448 | gnomAD-4.0.0 | 6.88499E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1956E-05 | 0 |
| V/G | rs763286782  |
-1.848 | 1.0 | N | 0.84 | 0.578 | 0.809581029878 | gnomAD-2.1.1 | 4.19E-06 | None | None | None | None | N | None | 6.58E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs763286782 |
-1.848 | 1.0 | N | 0.84 | 0.578 | 0.809581029878 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 1.44809E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs763286782 |
-1.848 | 1.0 | N | 0.84 | 0.578 | 0.809581029878 | gnomAD-4.0.0 | 6.23258E-06 | None | None | None | None | N | None | 1.3492E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7177 | likely_pathogenic | 0.7206 | pathogenic | -1.922 | Destabilizing | 0.999 | D | 0.645 | neutral | D | 0.524503484 | None | None | N |
| V/C | 0.9284 | likely_pathogenic | 0.9352 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| V/D | 0.9916 | likely_pathogenic | 0.9904 | pathogenic | -2.107 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/E | 0.9768 | likely_pathogenic | 0.9752 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.528273032 | None | None | N |
| V/F | 0.7791 | likely_pathogenic | 0.8149 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/G | 0.8629 | likely_pathogenic | 0.8463 | pathogenic | -2.43 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | N | 0.512281918 | None | None | N |
| V/H | 0.9916 | likely_pathogenic | 0.992 | pathogenic | -1.966 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| V/I | 0.0951 | likely_benign | 0.101 | benign | -0.521 | Destabilizing | 0.998 | D | 0.603 | neutral | None | None | None | None | N |
| V/K | 0.9778 | likely_pathogenic | 0.9751 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/L | 0.5284 | ambiguous | 0.5434 | ambiguous | -0.521 | Destabilizing | 0.997 | D | 0.619 | neutral | N | 0.51590543 | None | None | N |
| V/M | 0.5835 | likely_pathogenic | 0.6202 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.502571454 | None | None | N |
| V/N | 0.9686 | likely_pathogenic | 0.9699 | pathogenic | -1.805 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| V/P | 0.886 | likely_pathogenic | 0.8925 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/Q | 0.9771 | likely_pathogenic | 0.9766 | pathogenic | -1.672 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| V/R | 0.9733 | likely_pathogenic | 0.9716 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/S | 0.9453 | likely_pathogenic | 0.9472 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/T | 0.8481 | likely_pathogenic | 0.8634 | pathogenic | -2.094 | Highly Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/W | 0.9919 | likely_pathogenic | 0.9934 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Y | 0.9616 | likely_pathogenic | 0.9673 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.853 | 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.