Structural position:
- Domain Type: Ig
- Aligned Position: 15
- Secondary Structure Element: e
- Secondary Structure Region: β-strand A'
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 6116 |
Ig-45 |
12 | rs2154307658 |
0.1347 | None | 0.008 | D | 0.187 | 0.126 | 0.534860934425 | gnomAD-4.0.0 | 1.36889E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79918E-06 | 0 | 0 |
| V/M | 6116 |
Ig-45 |
12 | rs772718770 |
0.1312 | -0.381 | 0.349 | D | 0.429 | 0.151 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 4.14E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.83E-06 | 0 |
| V/M | 6116 |
Ig-45 |
12 | rs772718770 |
0.1312 | -0.381 | 0.349 | D | 0.429 | 0.151 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | 6116 |
Ig-45 |
12 | rs772718770 |
0.1312 | -0.381 | 0.349 | D | 0.429 | 0.151 | None | gnomAD-4.0.0 | 7.69164E-06 | None | None | None | None | I | None | 5.07597E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39383E-06 | 2.68111E-05 | 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.