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. 2013 Aug 27;8(8):e72518. doi: 10.1371/journal.pone.0072518

Figure 1. The causative mutation in Family 115.

Figure 1

a) Pedigree of the Family 115. Solid boxes and circles indicate affected individuals. The individuals from whom DNA was available have been given a number. The proband is marked with a red arrow. b) Sequence chromatogram showing the mutation c.1751C>T, marked with an arrow, present in the proband (bottom). The mutation leads to change in a codon, marked by a box, substituting a proline by a leucine at position 584 in the protein. The translation reading frame is marked with brackets in the normal sequence (top). c) ClustalW alignment of the region of the human EPHA2 protein including residue 584 showing conservation of the mutated residue across species.