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. Author manuscript; available in PMC: 2014 Jul 1.
Published in final edited form as: Hum Genet. 2013 Mar 19;132(7):761–770. doi: 10.1007/s00439-013-1289-0

Figure 1.

Figure 1

Pedigree, DNA sequence and amino acid conservation associated with CRYBB3 allele. a. Pedigree of family 7 with affected status and genotyping results indicated (+/−: heterozygous CRYBB3 mutation present). The proband is indicated with an arrow; black symbol indicates congenital or juvenile cataract. b. DNA sequence of CRYBB3 showing heterozygous c.581T>A mutation (control sequence on bottom). c. Alignment of protein regions showing conservation of Val194 residue in the CRYBB3 proteins in various species as well as in CRYBB2, but not CRYBB1.