Structural position:
- Domain Type: Ig
- Aligned Position: 68
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | 18429 |
Ig-115 |
48 | None | 0.1592 | None | 0.317 | N | 0.668 | 0.043 | 0.247322355667 | gnomAD-4.0.0 | 2.05506E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70002E-06 | 0 | 0 |
| I/T | 18429 |
Ig-115 |
48 | None | 0.6473 | None | 0.002 | N | 0.415 | 0.155 | 0.454331543959 | gnomAD-4.0.0 | 1.5954E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43885E-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.