Figure 2

Figure 2

Collation of clinical data relating to historical VANGL2 variants. (A) Primary structure of human VANGL2 (UniProt: Q9ULK5) [116, 117] showing known functional domains and location of VUS. Two N-terminal serine/threonine motifs (cyan [78]), 4 transmembrane domains (magenta, [98]), TGN (trans-Golgi network) sorting motif (yellow [118]), the Dishevelled and Prickle binding region (green [119–121], which overlaps with two ubiquitinoylation sites, (orange [122], a VCP interacting motif (mauve, [122])) and a nuclear localization signal (white [123]). Two further ubiquitinoylation sites (orange) and the Type I PDZ domain (blue, [124]) are present at the C-terminal end. (B) Clinical pedigrees, major developmental defects and original references relating to previously reported missense mutations in coding sequence of human VANGL2. Squares, circles, diamonds, triangles represent male, females, unknown gender, and foetuses, respectively. Arrowheads denote proband. Diagonal line denotes deceased. Open symbols: healthy, black symbols: affected. V2: VANGL2 genotype, D2: DVL2 genotype. Question mark denotes DNA unavailable. Het.: heterozygous.