Table 2.
Bioinformatic analysis of missense mutations in ZC4H2
| R18K | L66H | R213W | |
|---|---|---|---|
| Consurf results | Exposed residue /Highly conserved | Buried residue /Highly conserved | Exposed residue /Highly conserved |
| ipTree | Destabilizing | Destabilizing | Destabilizing |
| MuStab | Decreased stability | Decreased stability | Increased stability |
| Mutation tasting | Disease causing | Disease causing | Disease causing |
| pMut | Neutral | Pathological | Pathological |
| Polyphen | Damaging | Damaging | Damaging |
| SIFT | Tolerated | Not tolerated | Not tolerated |
| Conserved | Conserved down to gallus | Conserved down to tropicalis | Conserved down to Fugu |
| Domain | zf-C4H2 coiled-coil domain | zf-C4H2 coiled-coil domain | No |