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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 2.

Figure 2

Pedigree, DNA sequence and amino acid conservation associated with CRYBA2 allele. a. Pedigree of family 4 with affected status and genotyping results indicated (+/−: heterozygous CRYBA2 mutation present, −/−: CRYBA2 mutation absent). The proband is indicated with an arrow; black symbol indicates congenital or juvenile cataract, gray symbol indicates adult-onset cataract. b. DNA sequence of CRYBA2 showing heterozygous c.148G>A mutation (control sequence on bottom). c. Alignment of protein regions showing conservation of Val50 residue in CRYBA2 proteins in various species as well as other beta- and gamma- crystallins.