Table 1

Phenylalanine hydroxylase mutations with corresponding in vitro predicted residual enzyme activities (PRA) used for subsequent analysis

MutationActivity
(% of normal)
R243X, R252W, R408W, F299C, IVS12nt1, IVS10nt5460
E280K3
R158Q10
I65T, L348V, R261Q30
Y414C50
R408Q55