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. 2018 Feb 20;9(2):112. doi: 10.3390/genes9020112

Figure 2.

Figure 2

Pedigree of a Family 2 with dominant GJA3 mutation: (A) Family with congenital cataract, showing segregation of a mutation c.56C>T p.(Thr19Met) in the GJA3 gene. Normal individuals are represented with +/+ and affected individuals with the +/M symbol for the mutation. (B) Sanger sequencing DNA chromatogram of GJA3 for the normal and affected individuals. (C, D) Nucleotide and amino acid conservation in orthologous species for the c.56C>T p.(Thr19Met). The wild type nucleotide (C) and amino acid (T) are represented with arrow and in red color.