Phenylalanine hydroxylase mutations with corresponding in vitro predicted residual enzyme activities (PRA) used for subsequent analysis
Mutation | Activity (% of normal) |
R243X, R252W, R408W, F299C, IVS12nt1, IVS10nt546 | 0 |
E280K | 3 |
R158Q | 10 |
I65T, L348V, R261Q | 30 |
Y414C | 50 |
R408Q | 55 |