Structural position:
- Domain Type: Ig
- Aligned Position: 81
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | 17299 |
Ig-112 |
49 | rs369648778 |
0.1086 | -1.327 | None | N | 0.659 | 0.099 | None | gnomAD-2.1.1 | 7.52E-05 | None | None | None | None | N | None | 0 | 8.51E-05 | None | 9.69E-05 | 0 | None | 0 | None | 0 | 1.25339E-04 | 1.40964E-04 |
| P/L | 17299 |
Ig-112 |
49 | rs369648778 |
0.1086 | -1.327 | None | N | 0.659 | 0.099 | None | gnomAD-3.1.2 | 7.91E-05 | None | None | None | None | N | None | 2.42E-05 | 1.97109E-04 | 0 | 0 | 0 | None | 9.45E-05 | 0 | 8.83E-05 | 0 | 4.80307E-04 |
| P/L | 17299 |
Ig-112 |
49 | rs369648778 |
0.1086 | -1.327 | None | N | 0.659 | 0.099 | None | gnomAD-4.0.0 | 7.87856E-05 | None | None | None | None | N | None | 1.33776E-05 | 1.83713E-04 | None | 1.01509E-04 | 0 | None | 1.56485E-05 | 0 | 8.31202E-05 | 1.099E-05 | 1.9245E-04 |
| P/T | 17299 |
Ig-112 |
49 | None | 0.0721 | None | None | N | 0.495 | 0.051 | 0.15556083564 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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.