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. Author manuscript; available in PMC: 2014 Mar 22.
Published in final edited form as: Vision Res. 2013 Jan 18;80:41–50. doi: 10.1016/j.visres.2012.12.012

Figure 5.

Figure 5

Mutation and opsin gene arrays in mother and son. (A) Sequence data revealing the exon 2 mutation c.121G>A (black line)) encoding a p.Glu41Lys substitution. (B) Exon 3 sequences. Note the variation in the maternal sequence at three sites that distinguish L and M exon 3. (C) Promoter sequences. Note the variation in the maternal sequence at five sites that distinguish L and M promoters. (D) Hybrid gene showing the position of the c.121G>A change in exon 2 found in affected male subject and in his mother. (E) Wild type L and M genes also present in the mother on her second X chromosome. (n) indicates multiple M cone opsin sequences in maternal L/M array.