Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

Figure 3

Representative chromatogram of RDH12 sequence. (a) The RDH12 gene (red filled box) spanning 32.56 kb on chromosome 14q24.1 (upper panel) contains 7 exons. The identified homozygous variant, c.437T<A (p.V146D), was located in exon 4 of this gene; (b) normal sequence from an unaffected member (I: 1), a heterozygous T to A substitution at codon 146 from unaffected member (I: 2, I: 4, II: 2), and a homozygous change from (III: 1 and III: 2). (c) Orthologous protein sequence alignment of RDH12 from different species; the mutated residue showing conservation of Valine (V) at codon 146 was shaded in brown.

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