Structural position:
- Domain Type: Ig
- Aligned Position: 36
- Secondary Structure Element: e
- Secondary Structure Region: β-strand B
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | 1727 |
Ig-8 |
25 | rs2154346254 |
0.6237 | None | 1.0 | N | 0.73 | 0.573 | 0.67736492023 | gnomAD-4.0.0 | 2.05229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52131E-05 | None | 0 | 0 | 1.79859E-06 | 0 | 0 |
| E/A | 35308 |
Ig-165 |
23 | rs754935594 |
0.1889 | -0.836 | 0.089 | N | 0.559 | 0.161 | 0.191931220699 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 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.