Table 1. Missense mutations of Sitosterolemia.

ABCG5	Motif	ABCG8	Motif
E146Q	E-helix	R184H	E-helix
C287R	Nucleotide-binding domain	L195Q	Nucleotide-binding domain
R389H	TMD polar relay	P231T	Nucleotide-binding domain
N437K	TMD polar relay	R263Q	Nucleotide-binding domain
R419P	Apex of TMH2	R405H	Connecting helix
R419H	Apex of TMH2	L501P	TMD very close to the polar relay
R550S	Apex of TMH1	R543S	TMD polar relay
		L572P	Apex TMH5
		L596R	Apex TMH5