Figure 4.

Multiple sequence alignment of affected CYP19A1 amino acid sequences from patients showing that all variants described in this report are conserved in higher primates. The valine 161 residue is well conserved across species and in some cases, a similar amino acid (isoleucine) was found (alligator, manakin, and turtle). The CYP19A1 proteins from human, chimpanzee, rhesus monkey and pig have an arginine at the position 264, whereas dog, cow, and mouse have a histidine, and rat, American alligator, golden-collared manakin, and turtle have glutamine at amino acid position 264. Considering the critical role of arginine 375 in heme binding, it was found to be conserved across species and no substitutions were identified in all the CYP19A1 sequences analyzed.