Structural position:
- Domain Type: Ig
- Aligned Position: 10
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | 20484 |
Ig-121 |
6 | None | 0.7872 | None | 0.994 | N | 0.614 | 0.347 | 0.339074221408 | gnomAD-4.0.0 | 1.40687E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.83073E-06 | 0 | 0 |
| D/Y | 20484 |
Ig-121 |
6 | None | 0.7645 | None | 0.998 | N | 0.694 | 0.404 | 0.711079051923 | gnomAD-4.0.0 | 7.03433E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.15364E-07 | 0 | 0 |
| G/E | 20777 |
Ig-122 |
9 | rs786205541 |
0.5624 | None | 1.0 | N | 0.826 | 0.472 | 0.304760801415 | gnomAD-4.0.0 | 2.73735E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.47222E-04 | 1.7991E-06 | 0 | 0 |
| G/V | 20777 |
Ig-122 |
9 | None | 0.6435 | None | 1.0 | N | 0.841 | 0.457 | 0.484037581386 | gnomAD-4.0.0 | 6.84337E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99548E-07 | 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.