Structural position:
- Domain Type: Ig
- Aligned Position: 128
- Secondary Structure Element: e
- Secondary Structure Region: β-strand D
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/P | 1342 |
Ig-5 |
52 | rs1561323110 |
0.8801 | None | 1.0 | N | 0.739 | 0.62 | 0.852661866299 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/P | 1342 |
Ig-5 |
52 | rs1561323110 |
0.8801 | None | 1.0 | N | 0.739 | 0.62 | 0.852661866299 | gnomAD-4.0.0 | 1.36828E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99339E-07 | 0 | 1.65596E-05 |
| E/K | 3516 |
Ig-25 |
52 | None | 0.5348 | None | None | None | None | 0.22 | None | gnomAD-4.0.0 | 2.05257E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69836E-06 | 0 | 0 |
| N/S | 3989 |
Ig-28 |
52 | None | 0.107 | None | 0.001 | N | 0.109 | 0.159 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 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.