Figure 2. Partial sequence of the KAL1 gene from a normal male control (A) and from patient 7 (B). A heterozygous guanine-to-adenine transition at nucleotide 1540 (c.1540G>A) in exon 11, which results in a glutamic acid–to-lysine substitution at codon 514 (p.E514K), is observed.