Figure 5.
Identification of a 3-bp deletion in exon 7 of affected XLAAD-200 individuals. (a) Analysis of amplified genomic exon 7 sequence of XLAAD-200-28 and his sibling control XLAAD-200-29 showing deletion of bp 15–17 in the patient’s exon 7 sequence. The same mutation was confirmed by cDNA sequencing (data not shown). (b) Schematic representation of JM2 Zip domain and its homology to the Zip domain of human N-myc. The deleted glutamic residue (E), located in the second heptad, is boldface. A plus sign indicates homologous amino acid residues.
