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. 2010 Feb;51(2):297–308. doi: 10.1194/jlr.M000422

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
a

Mutation found in FH patients.