Table 2. Missense mutations of non-Sitosterolemia lipid phenotypes.

Missense mutation	Motif	Lipid phenotype	Note
Q604E	ABCG5/ECD	Gallstones High triglyceride levels low HDL-C levels
R50C	ABCG5/Unknown	Gallstones	Unresolved residue on ABCG5G8 structure model
V632A	ABCG8/ECD	Gallstones High LDL-C levels
T400K	ABCG8/Three-helix bundle	Gallstones High LDL-C levels
Y54C	ABCG8/Unknown	Gallstones	Unresolved residue on ABCG5G8 structure model
D19H	ABCG8/Unknown	Gallstones High triglyceride levels High LDL-C levels	Unresolved residue on ABCG5G8 structure model