Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss - Fig 3

<p>(A) Read coverage of each chromosome and mutation loci statistical results of the patients and of the normal control; (B) DNA sequence chromatograms presenting the two heterozygous missense mutations c.511G>C; p.G171R in affected individuals (upper panel) compared with the wild-type controls (lower panel). (C) The structure of the EYA4 gene. The EYA4 gene has 20 exons. The c.511G>C; p.G171R mutation identified in the EYA4 gene is in exon 8. The conservation analysis indicates that the Gly residue at 171 in the EYA4 protein is not conserved across <i>Homo sapiens</i>, <i>Pan troglodytes</i>, <i>Macaca mulatta</i>, <i>Mus musculus</i>, <i>Gallus gallus</i>, <i>Takifugu rubripes</i>, <i>Danio rerio</i> and <i>Xenopus tropicalis</i>.</p>