Structural position:
- Domain Type: Fn3
- Aligned Position: 82
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Q | 19634 |
Fn3-30 |
56 | rs397517639 |
0.2479 | 0.066 | 0.989 | N | 0.449 | 0.218 | 0.201204373187 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 9.94E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Q | 19634 |
Fn3-30 |
56 | rs397517639 |
0.2479 | 0.066 | 0.989 | N | 0.449 | 0.218 | 0.201204373187 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | I | None | 0 | 0 | None | 4.76963E-05 | 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.