Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Figures

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  FIGURE 1. (A) Severe scoliosis in Individual 1. (B) Amino acid sequences of ACTC1 orthologs and human paralogs. Glu109 and Lys217 are highlighted. (C) Locations of Glu109 and Lys217 (top) and impact of p.Glu109Lys and p.Lys217Thr on amino acid interactions (bottom). The substitutions eliminate hydrogen bonds with the side chains of Asn113 and Asp213 (light blue dashed lines) and create hydrogen bonds with the backbones of Ala110 and Asp213, respectively (not shown). Structures in center: Red/orange/dark blue/beige = adenosine‐5′‐diphoshate; green = Mg2+.

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  FIGURE 2. (A) Anti‐FLAG staining (red) of MC3T3 cells expressing wild‐type ACTC1, p.Glu109Lys, and p.Lys217Thr, with phalloidin staining targeting Actin filaments (green) and nuclear staining (blue) (40× magnification). (B) Western blot showing levels of the ACTC1 protein in cells with wild‐type ACTC1 and the two variants (top). Tubulin was used as a positive control (bottom). (C) ACTC1 variants reported in various phenotypes [1], with positions shown. Those contributed by this report are underlined.