Figure 2: The ARR4 mutation identified in myopia
patients. (A) Sanger sequencing analysis for the mutation identified in
the family with high myopia. (B) Location of the pathogenic ARR4protein. The protein contains two important functional domains: an
arrestin_N domain and an arrestin_C domain. (C) The nonsenseARR4 c.569C>G (p.S190*) mutation is highly conserved
among different species. (D) The pedigree for the family with the
c.569C>G (p.S190*) mutation. Square = male, circle =
female, dark symbol = affected, arrow = proband, slash = deceased
member, ‘Ω’ = samples used for exome sequencing, ‘+’ = DNA available for
this study.