Additional file 2: Figure S2. of Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness

The 5 mutations identified in this study as being BH4-responsive are localized in the catalytic domain of phenylalanine hydroxylase. The PAH monomer is drawn as a ribbon representation complexed with tetrahydrobiopterin (BH4 orange balls), thienylalanine (analog substrate) and iron (red sphere). The N-terminal regulatory domain (residues 103 – 142) is in blue, the catalytic domain (residues 143–410) is in green and the dimerization motif (residues 411–427) is in purple. Mutated aminoacids are indicated in red. (TIF 1429 kb)