Figure 5. Relative positions of CYP11B1 and CYP11B2 on chromosome 8 and mutations of CYP11B2. A, The relative positions of CYP11B1 and CYP11B2 on chromosome 8q22. Arrows indicate direction of transcription. B, Mutations of CYP11B2 in reported patients with CYP11B2 deficiency are summarized in the figure. A deletion of 5 base pair (Δ35) in exon 1, R384P in exon 7 and L451F in exon 8 have been reported in patients with aldosterone synthase deficiency type 1 (ASD1), previously termed as “corticosterone methyloxidase type 1 (CMO I) deficiency”. R181W in exon 3, V386A and T318A in exon 7 and G453S in exon 8 have been reported in patients with aldosterone synthase deficiency type 2 (ASD2), previously termed as “corticosterone methyloxidase type 2 (CMO II) deficiency”. Compound heterozygous mutation of E255X and Q272X have been found in the patient with unusual ASD (CMO).