Structural position:
- Domain Type: Ig
- Aligned Position: 78
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | 17296 |
Ig-112 |
46 | rs1028433729 |
0.3275 | -0.09 | 1.0 | N | 0.785 | 0.408 | 0.578132126873 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/C | 17296 |
Ig-112 |
46 | rs1028433729 |
0.3275 | -0.09 | 1.0 | N | 0.785 | 0.408 | 0.578132126873 | gnomAD-4.0.0 | 3.35562E-05 | None | None | None | None | I | None | 2.99347E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.31997E-05 | 0 | 0 |
| R/H | 17296 |
Ig-112 |
46 | rs200456782 |
0.1617 | -0.779 | 1.0 | N | 0.789 | 0.375 | None | gnomAD-2.1.1 | 2.14938E-04 | None | None | None | None | I | None | 4.14E-05 | 7.66131E-04 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 2.19388E-04 | 2.82008E-04 |
| R/H | 17296 |
Ig-112 |
46 | rs200456782 |
0.1617 | -0.779 | 1.0 | N | 0.789 | 0.375 | None | gnomAD-3.1.2 | 1.11951E-04 | None | None | None | None | I | None | 2.42E-05 | 1.97006E-04 | 0 | 0 | 5.85709E-04 | None | 9.43E-05 | 0 | 1.32505E-04 | 0 | 0 |
| R/H | 17296 |
Ig-112 |
46 | rs200456782 |
0.1617 | -0.779 | 1.0 | N | 0.789 | 0.375 | None | gnomAD-4.0.0 | 1.80511E-04 | None | None | None | None | I | None | 2.67487E-05 | 4.00735E-04 | None | 0 | 7.62982E-04 | None | 7.82203E-05 | 0 | 1.84895E-04 | 2.1978E-05 | 9.62155E-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.