Figure 4. The causative mutation in Family 74.

a) Pedigree of the Family 74. 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 variant c.2875G>A, marked by an arrow, present in the proband (bottom). The variant leads to change in a codon, marked by a box, substituting an alanine residue by a threonine in the protein at position 959. The translation reading frame is marked with brackets in the normal sequence (top). c) ClustalW alignment of the region of human EPHA2 including residue 959 showing conservation of the alanine residue across species.