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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults

Fig. 3

Novel missense mutations that predict changes in crystal structure. The mutation sites and surrounding residues are shown in yellow and green sticks, respectively. A p.C353Y: predicted to produce polar interaction with SER992. B p.G319V: predicted to produce repulsion. C p.G384R: predicted to produce new polar interactions with ARG461, ARG384, and ARG383. D p.L55S: predicted to produce a new polar interaction with TRP51. E p.R831S: the polar interaction with SER992 disappears, and polar interactions with ALA827 and GLY826 are generated

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172