Fig. 1
From: Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr
Clinical evaluation and mutation identification of a four-generation Chinese family with congenital cataract. a Pedigree map of the family. The arrow indicates the proband. Squares and circles symbolize males and females, respectively. Black and white denotes affected and unaffected individuals, respectively. + represents wild-type GJA8 allele; − represents allele with mutation. b Snapshot during surgery of the proband showed nuclear cataract. c Sanger sequencing of GJA8 detected a c.205G > A transversion in affected patients which caused the replacement of a wild-type alanine with threonine at codon 69 (p.Ala69Thr). d Multiple-sequence alignments of GJA8 in various species showed codon 69 was located within a highly conserved region