Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate

Figure 2

(a) The sequencing results of the ARHGAP29 variant. Sequence chromatograms indicate the heterozygous variant (c.2615C > T, p.A872V) in the CL/P family. (b) The mutated site (A872V) is highly evolutionary conserved cross species. The red graphic represents a mutated amino acid, and the red box emphasizes cross species comparison. (c) A schematic diagram of the ARHGAP29 structure and the mutated AA site (A872V). Gray boxes represent the domains. “Rap2 interaction” indicates a coiled-coil region known to interact with Rap2; “C1” indicates a C1 domain; “RhoGAP” indicates a Rho GTPase domain; “PTPL1 interaction” indicates a small C-terminal region that interacts with PTPL1; and the black arrow represents the mutated AA site.

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