Fig. 5: Functionally impairing mutations in the NBDs.
From: Structural basis of bile salt extrusion and small-molecule inhibition in human BSEP
a Mapping of eight clinically relevant mutations in NBDs: R432T, T463I, Q558H, G562D, A588V, G1116R, S1120N, and R1231Q. The red spheres refer to PFIC2 variants, while the blue spheres represent the BRIC2 variants. b–d Molecular interactions of BRIC2 variants. The interactions are indicated by dashed lines. e–i Molecular interactions of PFIC2 variants. The residues causing PFIC2 are shown as sticks and dots.
