TABLE 1.
Class | Location in Structure | Comment |
---|---|---|
Linker/Hinge mutations: | ||
G293S | Hinge R7, EGF-A | |
F362A | Interface EGF-B, β-propeller | |
G375S | Hinge EGF-B, β-propeller | FH mutationa |
Histidine cluster: | ||
H190Y | R5 | FH mutation |
H562Y | β-propeller | FH mutation |
H586Y | β-propeller | |
R4, R5, β-propeller interface: | ||
W144A | R4 | |
W193A | R5 | |
W515A | β-propeller | |
W541A | β-propeller | |
K560W | β-propeller | |
K582W | β-propeller |
Mutation found in FH patients.