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Table 2 Mutations associated with true BH4 responsiveness and mutations newly associated with true BH4 responsiveness

From: Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype

p.F39L p.V190A p.K320N New
p.L48S p.V230I p.L348V p.A104D
p.F55L p.R241Q p.P366H p.T193I
p.I65T p.R241H p.A373T p.P211T
p.R68S p.R241C p.E390G p.T238A
p. D129G p.V245A p.A403V p.P314H
p.P147L p..P275S p.F410S p.R408Q
p.V177L p.A300S p.Y414C  
p.V177M p.A309V p.D415N  
p.E178G p.A313T p.P416Q