TABLE 1.
Structure-based mutagenesis of LDL-R
| 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.