Structural position:
- Domain Type: Ig
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | 17300 |
Ig-112 |
50 | rs760140429 |
0.0883 | -1.621 | 0.029 | N | 0.547 | 0.036 | 0.0762999501168 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 5.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | 17300 |
Ig-112 |
50 | rs760140429 |
0.0883 | -1.621 | 0.029 | N | 0.547 | 0.036 | 0.0762999501168 | gnomAD-4.0.0 | 3.18918E-06 | None | None | None | None | N | None | 0 | 2.2899E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03251E-05 |
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.