Fig. 3.
Schematic representation of patient 2 homozygous mutation. See legend of Fig. 2 for the meaning of the symbols. A vertical arrow shows boundaries between intron-exon or where the putative protein is changed in the patient. Above the amino acid 3002, the patient would have a normal protein however, this changes from residue 3003 on. The location of relevant portions of ATM cDNA and their corresponding amino acid sequence are shown in the bottom panel. The 5 amino acids changed in the patient's truncated-protein are shown in italics.