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Table 3 Genotypes with unclassified mutations

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

No potential BH4 responsiveness (n) Potential BH4 responsiveness (n)
c.168+5G>C1/p.R261Q (1) False positive
c.842+1G>A1/p.R243Q (1) c.1315 + 1G > A1/p.I174N (1)
c.842+5G>A1/p.R158Q (1) p.R158Q/p.R158Q (1)
c.1066-11G>A1/p.D222G (1) p.R158Q/p.Y277D (1)
c.1315+1G>A1/p.I174N (1) p.R243*1/p.R261Q (1)
c.1315+1G>A1/p.R261Q (4)  
c.1315+1G>A1/p.R261P (1) True positive
c.1315+1G>A1/p.Y277D (1) p.L48S2/p.R408W (1)
c.1315+1G>A1/p.R408W (1) p.A104D3/p.R158Q (1)
p.L48S2 /p.R261Q (1) p.A104D3/p.R408W (1)
p.R111X1/p.R408W (1) p.R158Q/p.V190A2 (2)
p.R158Q/p.R158Q (1) p.R158Q/p.Y414C2 (2)
p.R158Q/p.R243*1 (1) p.I174N/p.P211T3 (1)
p.R158Q/p.R261P (1) p.E178G2/p.Y343C (1)
p.R158Q/p.R408W1 (1) p.R261Q/p.P281L1,4 (1)
p.I174T/p.F299C1 (1) p.R261P/p.Y414C2 (1)
p.C203Y/ p.L348V2 (1) p.Y277D/p.P314H3 (1)
p.R261Q/p.R261Q (2) p.E280K/p.Y414C2 (1)
p.R261Q/p.E280K1(2) p.A300S2/p.R408W (1)
p.R261Q/p.P281L1 (1)  
p.P281L1/p.R413P (2) No extension phase
  p.L48S2/p.R158Q (1)
  p.Y277D/p.P314H3 (1)
  1. 1 Putative Null Mutation. 2 Mutation associated with true BH4 responsiveness.
  2. 3 New Responsive Mutation. 4 Natural protein increase: 6.5 g/day (before treatment 10.5 g/day) with no statistically significant Phe concentration increase [6%, P = 0.379].