Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway

Figure 2

3D modeling of NDP and FZD4 missense changes. (a) Ribbon model of Norrin and Frizzled-4. The wild-type residues of NDP and FZD4 missense mutations were depicted in orange. (b–d) Closeup of NDP p.H43N, NDP p.C126F, and FZD4 p.M105R. The most stable confirmation was represented in blue. (e, f) NDP and FZD4 missense mutations were located at the protein interface. (g) After minimizing the protein energy, NDP p.H43N could not produce clash/contact bonds. (h) After minimizing the protein energy, NDP p.C126F produced clash/contact bonds, which were shown in yellow. (i) After minimizing the protein energy, FZD4 p.M105R could not produce clash/contact bonds. (j) The cysteine side chains that participated in forming disulfide bonds and creating the critical knot motif were shown in yellow.

(a)

(b)

(c)

(d)

(e)

(f)

(g)

(h)

(i)

(j)