Fig. 2.

Linear representation of the WNT16 (A), CRTAP (B), MYO7A (C) and NOTCH2 (D) with its domains and regions. For WNT16 in orange N-terminal domain, in yellow the CRD domain, in light brown thumb domain, in dark brown finger and in orange circles the O-palmitoleoyl serine modification (reviewed in Martínez-Gil et al., 2022). For CRTAP in green the tetratico repeat motif, triangles show the four CXXXC domains from (Ishikawa and Bächinger, 2013). For MYO7A in dark blue the Myosin motor and in red the actin binding site, in dark yellow the isoleucine-glutamine (IQ) motif, in pink the Single alpha-helix (SAH) domain, in green the Myosin Tail Homology 4 (MyTH4) domains, in light blue the FERM domains and in purple the SRC Homology 3 (SH3) domain from uniprot. For NOTCH2 in yellow the EGF-like domain, in orange the EGF-like with calcium binding, in green the cysteine-rich Lin-12/Notch (LNR) Repeats and in dark blue the Ankyrin (ANK) domains from uniprot.The black arrow signals the position of the variants found and ID patient where is found.