ZFIN Image: Derrick et al., 2023, Figure 8

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Figure Caption

Figure 8

Summary of VANGL2 VUS in vivo activity. (A) Comparison of observed variant frequency and CADD score of VANGL2 variants. p.S84F, p.R169H, p.R177H and p.F437S have not been observed in the population and are assigned frequency of 10⁻⁷. (B) Schematic of VANGL2 protein and location of residues, amino acid (text) is colour coded based on (A), residue position is colour coded based on malformation associated with variant (Figs 2 and 3). (C) Summary table of vangl2-developmental processes that were able to be at least partially rescued by injection of WT VANGL2 mRNA and results of variant mRNA analysis. Full rescue denoted by open circles, good rescue: green, some rescue: dark green, no rescue: grey, and exacerbation: magenta.

Acknowledgments

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