Structural position:
- Domain Type: Fn3
- Aligned Position: 58
- Secondary Structure Element:
- Secondary Structure Region:
SAVs
| SAV | Position (IC) | Domain | Position (Domain) | RS | AlphaMissense (IC) |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | 21111 |
Fn3-41 |
48 | rs547033801 |
0.1576 | -1.004 | 0.975 | N | 0.339 | 0.376 | 0.538421760271 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | 21111 |
Fn3-41 |
48 | rs547033801 |
0.1576 | -1.004 | 0.975 | N | 0.339 | 0.376 | 0.538421760271 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31165E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | 21111 |
Fn3-41 |
48 | rs547033801 |
0.1576 | -1.004 | 0.975 | N | 0.339 | 0.376 | 0.538421760271 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/F | 21111 |
Fn3-41 |
48 | rs547033801 |
0.1576 | -1.004 | 0.975 | N | 0.339 | 0.376 | 0.538421760271 | gnomAD-4.0.0 | 4.33986E-06 | None | None | None | None | N | None | 0 | 1.1676E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
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.