Table 1.
Mutation | Patient | PolyPhen-2 damage score |
---|---|---|
T4I | 177a | 0.907 |
G25S | 203a | 0 |
D26N | 085a | 0.001 |
V28I | 166a | 0 |
E41K | 210a | 0 |
L62F | 162a; 048a | 1 |
M73I | 210a | 0.09 |
E79K | 087a | 1 |
G195D | 164a | 0.009 |
Y157Fa | control | 0.999 |
Reduces enzymatic activity of CDO1 to up to 95%.