Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene

Camiel J.F. Boon; B. Jeroen Klevering; Carel B. Hoyng; Marijke N. Zonneveld-Vrieling; Sander B. Nabuurs; Ellen Blokland; Frans P.M. Cremers; Anneke I. den Hollander

doi:10.1016/j.ajhg.2007.11.007

PMC full text:

Am J Hum Genet. 2008 Feb 8; 82(2): 516–523.

Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.007

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Molecular Modeling of Missense Variants Detected in CFH

(A and B) Model of the SCR18 domain, depicting the effect of the Arg1078Ser variant. (A) wild-type sequence (Arg1078). (B) Arg1078Ser variant.

(C and D) Model of the SCR9 and SCR10 domains, depicting the effect of the Arg567Gly variant. (C) wild-type sequence (Arg567). (D) Arg567Gly variant. The SCR9 domain is shown in yellow, the SCR10 domain in orange, and the linker region between the two domains is shown in blue. Hydrogen-bonding partners for the residues in the linker region are indicated with dotted lines. All figures were made with Yasara.

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