Structural position:
- Domain Type: Ig
- Aligned Position: 77
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | 17295 |
Ig-112 |
45 | rs72632861 |
0.4452 | 0.328 | 0.942 | D | 0.686 | 0.219 | 0.32053947749 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| K/N | 17295 |
Ig-112 |
45 | rs72632861 |
0.4452 | 0.328 | 0.942 | D | 0.686 | 0.219 | 0.32053947749 | gnomAD-4.0.0 | 8.21766E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.04275E-03 | 4.49991E-06 | 0 | 1.65898E-05 |
| K/R | 17295 |
Ig-112 |
45 | None | 0.1012 | None | 0.032 | D | 0.406 | 0.093 | 0.379020345274 | gnomAD-4.0.0 | 1.36958E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79994E-06 | 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.