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Table 1 Genotypes observed in French patients with phenylketonuria. Association with clinical phenotypes and response to BH4 loading-test

From: Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness

Genotypes (?: neither mutation found with sequencing nor rearrangement found in MLPA; #: newly described mutation)

Number (freq %)

Number of BH4-loading tests (responders/non responders)

Total BH4 loading test responders

Total BH4 loading test non-responders

Number of responsive and/or non-responsive patients previously recorded in the BioPKU database for each responsive genotype of the present study

Predicted BH4-sensitivity (PRA) according to the literature ([10] except a [9]; b [30]; c.1066-11G > A [2])

Responsiveness as proposed in this manuscript if "Predicted BH4-sensitivity according to the literature" = unk

mHP

mPKU

cPKU

mut1

mut2

mut3

mut1

mut2

c. [1A > G]; [782G > A]

p. [Met1Val]; [Arg261Gln]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

Ra (38.5)

-

  

c. [60G > C]; [473G > A]

p. [Gln20His]; [Arg158Gln]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

R (10)

-

  

c. [60 + 5G > A]#; [1042C > G]

p. [?]; [Leu348Val]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

R (41)

-

  

c. [115_117delTTC]; [1042C > G]

p. [Phe39del]; [Leu348Val]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (20)

R (41)

-

  

c. [115_117delTTC]; [1315 + 1G > A]

p. [Phe39del]; [?]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

R (20)

NR (0)

-

  

c. [117C > G]; [785 T > G]#

p. [Phe39Leu]; [Val262Gly]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (49)

unk

-

  

c. [117C > G]; [814G > T]

p. [Phe39Leu]; [Gly272*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (49)

NR (1)

-

  

c. [117C > G]; [1169A > G]

p. [Phe39Leu]; [Glu390Gly]

1 (0.38)

-

-

1 (1/0)

1 (cPKU)

0

no data

R (49)

R (72.5)

-

  

c. [143 T > C]; [143 T > C]

p. [Leu48Ser]; [Leu48Ser]

3 (1.15)

-

2 (2/0)

1 (1/0)

3 (2 mPKU, 1cPKU)

0

37 R; 5 NR

R (39)

R (39)

-

  

c. [143 T > C]; [165delT]

p. [Leu48Ser]; [Phe55Leufs*6]

2 (0.77)

-

-

2 (2/0)

2 (cPKU)

0

2 PKU R

R (39)

unk

-

  

c. [143 T > C]; [526C > T]

p. [Leu48Ser]; [Arg176*]

1 (0.38)

-

-

1 (1/0)

1 (cPKU)

0

no data

R (39)

NR (1)

-

  

c. [143 T > C]; [547_548delinsTT]#

p. [Leu48Ser]; [Glu183Leu]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (39)

unk

-

  

c. [143 T > C]; [782G > A]

p. [Leu48Ser]; [Arg261Gln]

2 (0.77)

-

-

2 (2/0)

2 (cPKU)

0

22 R; 5 NR

R (39)

Ra (38,5)

-

  

c. [143 T > C]; [1045 T > C]

p. [Leu48Ser]; [Ser349Pro]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (39)

NR (1)

-

  

c. [143 T > C]; [1055delG]

p. [Leu48Ser]; [Gly352Valfs*48]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (39)

unk

-

 

NR

c. [143 T > C]; [1066-11G > A]

p. [Leu48Ser]; [?]

3 (1.15)

-

1 (0/1)

2 (0/2)

0

3 (1 mPKU, 2 cPKU)

 

R (39)

NR (0)

-

  

c. [143 T > C]; [1162G > A]

p. [Leu48Ser]; [Val388Met]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

2 mPKU R

R (39)

R (27,5)

-

  

c. [143 T > C]; [442-?_509 + ?del]

p. [Leu48Ser]; [Ex5del]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (39)

unk

-

  

c. [155delT]#; [781C > T]

p. [Leu52Cysfs*9]; [Arg261*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (1)

-

  

c. [158G > A]; [?]

p. [Arg53His]; [?]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

 

unk (79)

-

-

  

c. [164 T > C]#; [1066-11G > A]

p. [Phe55Ser]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [165delT]; [194 T > C]

p. [Phe55Leufs*6]; [Ile65Thr]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

R (25,3)

-

  

c. [165delT]; [441 + 5G > T]

p. [Phe55Leufs*6]; [?]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

unk

NRb

-

  

c. [165delT]; [727C > T]

p. [Phe55Leufs*6]; [Arg243*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (1)

-

  

c. [165delT]; [1066-11G > A]

p. [Phe55Leufs*6]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [165delT]; [1315 + 1G > A]

p. [Phe55Leufs*6]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [168 + 5G > C]; [168 + 5G > C]

p. [?]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

unk

-

  

c. [168 + 5G > C]; [782G > A]

p. [?]; [Arg261Gln]

2 (0.77)

-

-

2 (1/1)

1 (cPKU) minus 61 %

1 (cPKU)

3 PKU R; 1 PKU NR

unk

Ra (38.5)

-

  

c. [168 + 5G > C]; [1-?_60 + ?del]#

p. [?]; [Ex1del]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

unk

-

  

c. [169G > T]#; [194 T > C]

p. [Glu57*]; [Ile65Thr]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

R (25,3)

-

NR

 

c. [194 T > C]; [204A > T]

p. [Ile65Thr]; [Arg68Ser]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

2 PKU R; 1 PKU NR

R (25.3)

R (87)

-

  

c. [194 T > C]; [331C > T]

p. [Ile65Thr]; [Arg111*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (25.3)

NR (1)

-

  

c. [194 T > C]; [386A > G]

p. [Ile65Thr]; [Asp129Gly]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (25.3)

R

-

  

c. [194 T > C]; [473G > A]

p. [Ile65Thr]; [Arg158Gln]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (25.3)

R (10)

-

  

c. [194 T > C]; [526C > T]

p. [Ile65Thr]; [Arg176*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (25.3)

NR (1)

-

  

c. [194 T > C]; [782G > A]

p. [Ile65Thr]; [Arg261Gln]

3 (1.15)

-

-

3 (0/3)

0

3 (3 cPKU)

 

R (25.3)

Ra (38,5)

-

  

c. [194 T > C]; [782G > C]

p. [Ile65Thr]; [Arg261Pro]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (25.3)

unk

-

  

c. [194 T > C]; [829 T > G]

p. [Ile65Thr]; [Tyr277Asp]

1 (0.38)

-

1 (0/1)

-

0

1 (mPKU)

 

R (25.3)

unk (0–12)

-

  

c. [194 T > C]; [838G > A]

p. [Ile65Thr]; [Glu280Lys]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (25.3)

NR (1.95)

-

  

c. [194 T > C]; [842C > T]

p. [Ile65Thr]; [Pro281Leu]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

R (25.3)

NR (1)

-

  

c. [194 T > C]; [842 + 1G > A]

p. [Ile65Thr]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (25.3)

unk

-

  

c. [194 T > C]; [844G > A]

p. [Ile65Thr]; [Asp282Asn]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (25.3)

unk (2)

-

  

c. [194 T > C]; [898G > T]

p. [Ile65Thr]; [Ala300Ser]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

2 mHP R

R (25.3)

R (31)

-

  

c. [194 T > C]; [912 + 1G > A]

p. [Ile65Thr]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (25.3)

unk

-

  

c. [194 T > C]; [916A > G]

p. [Ile65Thr]; [I306Val]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

2 R

R (25.3)

unk (12–39)

-

  

c. [194 T > C]; [932 T > C]

p. [Ile65Thr]; [Leu311Pro]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (25.3)

NR (1)

-

  

c. [194 T > C]; [1042C > G]

p. [Ile65Thr]; [Leu348Val]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

5 PKU R; 1PKU NR

R (25.3)

R (41)

-

  

c. [194 T > C]; [1045 T > C]

p. [Ile65Thr]; [Ser349Pro]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (25.3)

NR (1)

-

  

c. [194 T > C]; [1066-11G > A]

p. [Ile65Thr]; [?]

4 (1.53)

-

-

4 (0/4)

0

4 (4 cPKU)

 

R (25.3)

NR (0)

-

  

c. [194 T > C]; [1169A > G]

p. [Ile65Thr]; [Glu390Gly]

2 (0.77)

-

1 (1/0)

1 (1/0)

2 (mPKU, cPKU)

0

3 PKU R

R (25.3)

R (72.5)

-

  

c. [194 T > C]; [1169A > G]; [1171A > G]#

p. [Ile65Thr]; ([Glu390Gly)]; [(Ser391Gly)]

1 (0.38)

-

-

1 (1/0)

1 (cPKU)

0

 

R (25.3)

R (72.5)

unk

  

c. [194 T > C]; [1208C > T]

p. [Ile65Thr]; [Ala403Val]

4 (1.53)

2 (2/0)

1 (0/1)

-

2 (2 mHP)

1 (PKUa) minus 15 %

1 mHP R

R (25.3)

R (32)

-

  

c. [194 T > C]; [1222C > T]

p. [Ile65Thr]; [Arg408Trp]

2 (0.77)

-

-

2 (1/1)

1 (cPKU) minus 32 %

1 (cPKU) minus 14 %

9 R; 8 NR

R (25.3)

NR (1)

-

  

c. [196G > T]#; [1315 + 1G > A]

p. [Glu66*]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

NR

 

c. [204A > T]; [204A > T]

p. [Arg68Ser]; [Arg68Ser]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

1 mPKU R

R (87)

R (87)

-

  

c. [204A > T]; [398_401delATCA]

p. [Arg68Ser]; [Asn133Argfs*61]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (87)

unk

-

  

c. [204A > T]; [526C > T]; [707-7A > T]

p. [Arg68Ser]; [(Arg176*)]; [(?)]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

R (87)

NR (1)

unk

  

c. [204A > T]; [611A > G]

p. [Arg68Ser]; [Tyr204Cys]

1 (0.38)

-

1 (0/1)

-

0

1 (mPKU)

 

R (87)

unk

-

  

c. [204A > T]; [814G > T]

p. [Arg68Ser]; [Gly272*]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

1cPKU R

R (87)

NR (1)

-

  

c. [204A > T]; [1045 T > C]

p. [Arg68Ser]; [Ser349Pro]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

R (87)

NR (1)

-

  

c. [204A > T]; [1055delG]

p. [Arg68Ser]; [Gly352Valfs*48]

1 (0.38)

-

1 (0/1)

-

0

1 (mPKU)

 

R (87)

unk

-

 

NR

c. [204A > T]; [1162G > A]

p. [Arg68Ser]; [Val388Met]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

R (87)

R (27.5)

-

  

c. [204A > T]; [1222C > T]

p. [Arg68Ser]; [Arg408Trp]

2 (0.77)

-

1 (0/1)

1 (0/1)

0

2 (mPKU, cPKU)

 

R (87)

NR (1)

-

  

c. [204A > T]; [1315 + 1G > A]

p. [Arg68Ser]; [?]

1 (0.38)

-

1 (0/1)

-

0

1 (mPKU)

 

R (87)

NR (0)

-

  

c. [261C > A]; [1065 + 1G > A]

p. [Ser87Arg]; [?]

1 (0.38)

1 (0/1)

-

-

0

1 (mHP, H0 2.4 mg %, minus 8 %)

 

R (82)

unk

-

  

c. [266_267insC]; [842C > T]

p. [Ala90Cysfs*12]; [Pro281Leu]

1 (0.38)

-

-

1 (1/0)

1 (cPKU) minus 36 %

0

no data

unk

NR (1)

-

unclear

 

c. [284_286delTCA]; [441 + 5G > T]

p. [Ile95del]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NRb

-

  

c. [284_286delTCA]; [1243G > A]

p. [Ile95del]; [Asp415Asn]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

unk

R (93)

-

  

c. [311C > A]; [442-5C > G]

p. [Ala104Asp]; [?]

1 (0.38)

-

1 (0/1)

-

0

1 (mPKU)

 

R (26)

R

-

  

c. [311C > A]; [1222C > T]

p. [Ala104Asp]; [Arg408Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (26)

NR (1)

-

  

c. [331C > T]; [782G > A]

p. [Arg111*]; [Arg261Gln]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

Ra (38.5)

-

  

c. [331C > T]; [1222C > T]

p. [Arg111*]; [Arg408Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (1)

-

  

c. [434A > T]; [1222C > T]

p. [Asp145Val]; [Arg408Trp]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

unk

NR (1)

-

R

 

c. [441 + 5G > T]; [441 + 5G > T]

p. [?]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NRb

NRb

-

  

c. [441 + 5G > T]; [473G > A]

p. [?]; [Arg158Gln]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

NRb

R (10)

-

  

c. [441 + 5G > T]; [631C > A]

p. [?]; [Pro211Thr]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

NRb

R (72)

-

  

c. [441 + 5G > T]; [782G > A]

p. [?]; [Arg261Gln]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

NRb

Ra (38.5)

-

  

c. [441 + 5G > T]; [838G > A]

p. [?]; [Glu280Lys]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NRb

NR (1.95)

-

  

c. [441 + 5G > T]; [1045 T > G]

p. [?]; [Ser349Ala]

1 (0.38)

-

-

1 (1/0)

1 (cPKU) minus 41 %

0

no data

NRb

unk

-

 

R

c. [442-2A > C]#; [442-2A > C]#

p. [?]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

unk

-

  

c. [464G > C]; [1223G > A]

p. [Arg155Pro]; [Arg408Gln]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

R (49.7)

-

  

c. [464G > C]; [510-?-706 + ?del]

p. [Arg155Pro]; [Ex6del]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

unk

-

  

c. [472C > T]; [472C > T]

p. [Arg158Trp]; [Arg158Trp]

1 (0.38)

-

1 (0/1)

-

0

1 (mPKU)

 

unk

unk

-

  

c. [472C > T]; [754C > T]

p. [Arg158Trp]; [Arg252Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (1)

-

  

c. [473G > A]; [473G > A]

p. [Arg158Gln]; [Arg158Gln]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (10)

R (10)

-

  

c. [473G > A]; [526C > T]

p. [Arg158Gln]; [Arg176*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (10)

NR (1)

-

  

c. [473G > A]; [814G > T]

p. [Arg158Gln]; [Gly272*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (10)

NR (1)

-

  

c. [473G > A]; [1066-11G > A]

p. [Arg158Gln]; [?]

3 (1.15)

-

-

3 (0/3)

0

3 (3 cPKU)

 

R (10)

NR (0)

-

  

c. [473G > A]; [1169A > G]

p. [Arg158Gln]; [Glu390Gly]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

5 R

R (10)

R (72.5)

-

  

c. [473G > A]; [1222C > T]

p. [Arg158Gln]; [Arg408Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (10)

NR (1)

-

  

c. [473G > A]; [169-?_352 + ?del]

p. [Arg158Gln]; [Ex3del]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (10)

unk

-

  

c. [473G > T]; [782G > C]

p. [Arg158Trp]; [Arg261Pro]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

unk

-

  

c. [491 T > C]; [1241A > G]

p. [Ile164Thr]; [Tyr414Cys]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

unk

Ra (36)

-

  

c. [493G > A]; [493G > A]

p. [Ala165Thr]; [Ala165Thr]

2 (0.77)

-

-

2 (1/1)

1 (cPKU) minus 36 %

1 (cPKU) minus 0 %

no data

unk

unk

-

unclear

unclear

c. [493G > C]; [1169A > G]

p. [Ala165Pro]; [Glu390Gly]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

unk

R (72.5)

-

  

c. [500A > T]; [1066-11G > A]

p. [Asn167Ile]; [?]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

unk

NR (0)

-

R

 

c. [504C > A]#; [898G > T]

p. [Tyr168*]; [Ala300Ser]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

unk

R (31)

-

NR

 

c. [506G > A]; [1066-3C > T]

p. [Arg169His]; [?]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

unk

R

-

  

c. [509 + 1G > A]; [561G > A]

p. [?]; [Trp187*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [529G > C]; [561G > A]

p. [Val177Leu]; [Trp187*]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

unk

NR (0)

-

R

 

c. [569 T > C]; [796A > C]#

p. [Val190Ala]; [Thr266P]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (110)

unk

-

  

c. [580_581delCT]; [1042C > G]

p. [Leu194Glufs*5]; [Leu348Val]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

R (41)

-

  

c. [581 T > C]; [842C > T]

p. [Leu194Pro]; [Pro281Leu]

1 (0.38)

-

1 (0/1)

-

0

1 (mPKU)

 

unk

NR (1)

-

  

c. [593_614del22]; [969 + 1G > A]

p. [Tyr198Cysfs*136]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

unk

-

  

c. [631C > A]; [782G > A]

p. [Pro211Thr]; [Arg261Gln]

2 (0.77)

-

1 (1/0)

1 (1/0)

2 (mPKU, cPKU)

0

4 mHP R

R (72)

Ra (38,5)

-

  

c. [631C > A]; [1066-11G > A]

p. [Pro211Thr]; [?]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

10 R

R (72)

NR (0)

-

  

c. [632delC]; [1066-11G > A]

p. [Pro211Hisfs*130]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [635 T > C]; [1066-11G > A]

p. [Leu212Pro]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [638 T > C]; [638 T > C]

p. [Leu213Pro]; [Leu213Pro]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

unk

-

  

c. [638 T > C]; [727C > T]

p. [Leu213Pro]; [Arg243*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (1)

-

  

c. [648C > G]; [838G > A]

p. [Tyr216*]; [Glu280Lys]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (1.95)

-

NR

 

c. [653G > T]; [809G > A]

p. [Gly218Val]; [Arg270Lys]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (2.1)

-

  

c. [653G > T]; [1066-11G > A]

p. [Gly218Val]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [663_664delAG]; [912 + 1G > A]

p. [Asp222*]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

unk

-

  

c. [671 T > C]; [671 T > C]

p. [Ile224Thr]; [Ile224Thr]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

unk

unk

-

  

c. [682G > A]#; [1066-11G > A]

p. [Glu228Lys]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [721C > T]; [931_932delCT]#

p. [Arg241Cys]; [Leu311Glyfs*4]

1 (0.38)

-

1 (0/1)

-

0

1 (mPKU)

 

R (25)

unk

-

  

c. [722G > A]; [722G > A]

p. [Arg241His]; [Arg241His]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

R (23)

R (23)

-

  

c. [722G > A]; [782G > A]

p. [Arg241His]; [Arg261Gln]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

R (23)

Ra (38,5)

-

  

c. [722G > A]; [838_842 + 3del8]

p. [Arg241His]; [His280*]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

R (23)

unk

-

 

NR

c. [722G > A]; [842 + 1G > A]

p. [Arg241His]; [?]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

R (23)

unk

-

  

c. [722G > A]; [1066-11G > A]

p. [Arg241His]; [?]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

R (23)

NR (0)

-

  

c. [727C > T]; [727C > T]

p. [Arg243*]; [Arg243*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (1)

-

  

c. [727C > T]; [842C > T]

p. [Arg243*]; [Pro281Leu]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (1)

-

  

c. [727C > T]; [912 + 1G > A]

p. [Arg243*]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

unk

-

  

c. [727C > T]; [1042C > G]

p. [Arg243*]; [Leu348Val]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

R (41)

-

  

c. [727C > T]; [1066-11G > A]

p. [Arg243*]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (0)

-

  

c. [727C > T]; [?]

p. [Arg243*]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

-

-

  

c. [728G > A]; [913-7A > G]

p. [Arg243Gln]; [?]

1 (0.38)

-

-

-

0

1 (unk)

 

R (23)

unk

-

  

c. [728G > A]; [912 + 1G > A]

p. [Arg243Gln]; [?]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

R (23)

unk

-

  

c. [728G > A]; [1055delG]

p. [Arg243Gln]; [Gly352Valfs*48]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

R (23)

unk

-

 

NR

c. [728G > A]; [1208C > T]

p. [Arg243Gln]; [Ala403Val]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

6 mHP R

R (23)

R (32)

-

  

c. [734 T > C]; [1315 + 1G > A]

p. [Val245Ala]; [?]

1 (0.38)

1 (0/1)

-

-

0

1 (mHP, H0 2.4 mg %, minus 4 %)

 

R (50)

NR (0)

-

  

c. [754C > T]; [838G > A]

p. [Arg252Trp]; [Glu280Lys]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (1.95)

-

  

c. [754C > T]; [838_842 + 3del8]

p. [Arg252Trp]; [His280*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

unk

-

 

NR

c. [754C > T]; [1042C > G]

p. [Arg252Trp]; [Leu348Val]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

R (41)

-

  

c. [754C > T]; [1045 T > G]

p. [Arg252Trp]; [Ser349Ala]

1 (0.38)

-

1 (1/0)

-

1 (mPKU) minus 51 %

0

no data

NR (1)

unk

-

 

R

c. [754C > T]; [1055delG]

p. [Arg252Trp]; [Gly352Valfs*48]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

unk

-

 

NR

c. [754C > T]; [1066-11G > A]

p. [Arg252Trp]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (0)

-

  

c. [754C > T]; [1208C > T]

p. [Arg252Trp]; [Ala403Val]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

3 R

NR (1)

R (32)

-

  

c. [754C > T]; [1241A > G]

p. [Arg252Trp]; [Tyr414Cys]

1 (0.38)

-

-

1 (1/0)

1 (cPKU)

0

4 R

NR (1)

Ra (36)

-

  

c. [755G > A]; [782G > A]

p. [Arg252Gln]; [Arg261Gln]

1 (0.38)

-

-

1 (1/0)

1 (cPKU)

0

no data

unk (3–24)

Ra (38,5)

-

  

c. [755G > A]; [1066-11G > A]

p. [Arg252Gln]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk (3–24)

NR (0)

-

  

c. [770G > A]; [932 T > C]

p. [Gly257Asp]; [Leu311Pro]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (1)

-

  

c. [776C > T]; [1066-11G > A]

p. [Ala259Val]; [?]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

unk (2)

NR (0)

-

  

c. [776C > T]; [1222C > T]

p. [Ala259Val]; [Arg408Trp]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

unk (2)

NR (1)

-

  

c. [776C > T]; [970-?_1359 + ?]#

p. [Ala259Val]; [Ex10_13del]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk (2)

unk

-

  

c. [781C > G]#; [913-7A > G]

p. [Arg261Gly]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

unk

-

  

c. [781C > T]; [781C > T]

p. [Arg261*]; [Arg261*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (1)

-

  

c. [781C > T]; [782G > A]

p. [Arg261*]; [Arg261Gln]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

Ra (38.5)

-

  

c. [781C > T]; [1222C > T]

p. [Arg261*]; [Arg408Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (1)

-

  

c. [782G > A]; [782G > A]

p. [Arg261Gln]; [Arg261Gln]

8 (3.065)

-

-

8 (6/2)

6 (cPKU)

2 (cPKU)

59 R; 11 NR

Ra (38,5)

Ra (38,5)

-

  

c. [782G > A]; [782G > C]

p. [Arg261Gln]; [Arg261Pro]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

Ra (38,5)

unk

-

  

c. [782G > A]; [814G > T]

p. [Arg261Gln]; [Gly272*]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

Ra (38,5)

NR (1)

-

  

c. [782G > A]; [838G > A]

p. [Arg261Gln]; [Glu280Lys]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

Ra (38,5)

NR (1.95)

-

  

c. [782G > A]; [842 + 1G > A]

p. [Arg261Gln]; [?]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

Ra (38,5)

unk

-

  

c. [782G > A]; [912 + 1G > A]

p. [Arg261Gln]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

Ra (38,5)

unk

-

  

c. [782G > A]; [1045 T > C]

p. [Arg261Gln]; [Ser349Pro]

2 (0.77)

-

-

2 (1/1)

1 (cPKU) minus 41 %

1 (cPKU) minus 20 %

3 R

Ra (38,5)

NR (1)

-

  

c. [782G > A]; [1055delG]

p. [Arg261Gln]; [Gly352Valfs*48]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

Ra (38,5)

unk

-

 

NR

c. [782G > A]; [1066-11G > A]

p. [Arg261Gln]; [?]

4 (1.53)

-

-

4 (0/4)

0

4 (4 cPKU)

 

Ra (38,5)

NR (0)

-

  

c. [782G > A]; [1068C > G]

p. [Arg261Gln]; [Tyr356*]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

Ra (38,5)

NR (1)

-

  

c. [782G > A]; [1162G > A]

p. [Arg261Gln]; [Val388Met]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

Ra (38,5)

R (72.5)

-

  

c. [782G > A]; [1208C > T]

p. [Arg261Gln]; [Ala403Val]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

6 mHP R

Ra (38,5)

R (32)

-

  

c. [782G > A]; [1222C > T]

p. [Arg261Gln]; [Arg408Trp]

4 (1.53)

-

1 (0/1)

3 (0/3)

0

4 (1 mPKU, 3 cPKU)

 

Ra (38,5)

NR (1)

-

  

c. [782G > A]; [1241A > G]

p. [Arg261Gln]; [Tyr414Cys]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

12 R

Ra (38,5)

Ra (38,5)

-

  

c. [782G > A]; [1315 + 1G > A]

p. [Arg261Gln]; [?]

5 (1.915)

-

-

5 (0/5)

0

5 (5 cPKU)

 

Ra (38,5)

NR (0)

-

  

c. [782G > A]; [510-?-706 + ?del]

p. [Arg261Gln]; [Ex6del]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

Ra (38,5)

unk

-

  

c. [782G > C]; [1241A > G]

p. [Arg261Pro]; [Tyr414Cys]

1 (0.38)

-

-

1 (1/0)

1 (cPKU)

0

2 PKU R; 1 PKU NR

unk

Ra (36)

-

  

c. [782G > C]; [1315 + 1G > A]

p. [Arg261Pro]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [812A > G]; [1222C > T]

p. [His271Arg]; [Arg408Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (1)

-

  

c. [814G > T]; [1042C > G]

p. [Gly272*]; [Leu348Val]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

R (41)

-

  

c. [814G > T]; [1045 T > C]

p. [Gly272*]; [Ser349Pro]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (1)

-

  

c. [814G > T]; [1066-11G > A]

p. [Gly272*]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (0)

-

  

c. [814G > T]; [1162G > A]

p. [Gly272*]; [Val388Met]

1 (0.38)

-

-

1 (1/0)

1 (cPKU)

0

no data

NR (1)

R (27.5)

-

  

c. [814G > T]; [1169A > G]

p. [Gly272*]; [Glu390Gly]

2 (0.77)

-

2 (2/0)

-

2 (mPKU)

0

2 R

NR (1)

R (72.5)

-

  

c. [814G > T]; [1208C > T]

p. [Gly272*]; [Ala403Val]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

NR (1)

R (32)

-

  

c. [814G > T]; [1222C > T]

p. [Gly272*]; [Arg408Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (1)

-

  

c. [829 T > G]; [1042C > G]

p. [Tyr277Asp]; [Leu348Val]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

unk (0–12)

R (41)

-

  

c. [829 T > G]; [1066-11G > A]

p. [Tyr277Asp]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk (0–12)

NR (0)

-

  

c. [833C > A]; [1315 + 1G > A]

p. [Thr278Asn]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [837delC]#; [1315 + 1G > A]

p. [His280Asnfs*61]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [838G > A]; [838G > A]

p. [Glu280Lys]; [Glu280Lys]

11 (4.21)

-

-

11 (0/11)

0

11 (11 cPKU)

 

NR (1.95)

NR (1.95)

-

  

c. [838G > A]; [842 + 1G > A]

p. [Glu280Lys]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1.95)

unk

-

  

c. [838G > A]; [869A > T]#

p. [Glu280Lys]; [His290Leu]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1.95)

unk

-

  

c. [838G > A]; [898G > T]

p. [Glu280Lys]; [Ala300Ser]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

NR (1.95)

R (31)

-

  

c. [838G > A]; [1055delG]

p. [Glu280Lys]; [Gly352Valfs*48]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1.95)

unk

-

 

NR

c. [838G > A]; [1066-11G > A]

p. [Glu280Lys]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1.95)

NR (0)

-

  

c. [838G > A]; [1066-3C > T]

p. [Glu280Lys]; [?]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

NR (1.95)

R

-

  

c. [838G > A]; [1208C > T]

p. [Glu280Lys]; [Ala403Val]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

NR (1.95)

R (32)

-

  

c. [838G > A]; [1222C > T]

p. [Glu280Lys]; [Arg408Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1.95)

NR (1)

-

  

c. [838G > A]; [1243G > A]

p. [Glu280Lys]; [Asp415Asn]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

NR (1.95)

R (93)

-

  

c. [841C > T]; [1315 + 1G > A]

p. [Pro281Ser]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [842 + 1G > A]; [1066-11G > A]

p. [?]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [842 + 3G > C]; [842 + 3G > C]

p. [?]; [?]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

unk

unk

-

  

c. [842C > T]; [842C > T]

p. [Pro281Leu]; [Pro281Leu]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

NR (1)

NR (1)

-

  

c. [842C > T]; [898G > T]

p. [Pro281Leu]; [Ala300Ser]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

3 R

NR (1)

R (31)

-

  

c. [842C > T]; [926C > T]

p. [Pro281Leu]; [A309Val]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

R (44)

-

  

c. [842C > T]; [1042C > G]

p. [Pro281Leu]; [Leu348Val]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

NR (1)

R (41)

-

  

c. [842C > T]; [1066-11G > A]

p. [Pro281Leu]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (0)

-

  

c. [842C > T]; [1222C > T]

p. [Pro281Leu]; [Arg408Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

NR (1)

-

  

c. [842C > T]; [1241A > G]

p. [Pro281Leu]; [Tyr414Cys]

2 (0.77)

-

1 (1/0)

1 (1/0)

2 (mPKU, cPKU)

0

6 R; 1 NR

NR (1)

Ra (36)

-

  

c. [842C > T]; [1315 + 1G > A]

p. [Pro281Leu]; [?]

3 (1.15)

-

-

3 (1/2)

1 (cPKU) minus 33 %

2 (2 cPKU)

6 cPKU NR

NR (1)

NR (0)

-

  

c. [887A > G]#; [1222C > T]

p. [Asp296Gly]; [Arg408Trp]

1 (0.38)

-

-

1 (1/0)

1 (cPKU) minus 36 %

0

no data

unk

NR (1)

-

unclear

 

c. [896 T > G]; [1222C > T]

p. [Phe299Cys]; [Arg408Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk (3)

NR (1)

-

  

c. [896 T > G]; [169-?_352 + ?del]

p. [Phe299Cys]; [Ex3del]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk (3)

unk

-

  

c. [898G > T]; [1045 T > C]

p. [Ala300Ser]; [Ser349Pro]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

4 R

R (31)

NR (1)

-

  

c. [898G > T]; [1066-11G > A]

p. [Ala300Ser]; [?]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

16 R

R (31)

NR (0)

-

  

c. [898G > T]; [1315 + 1G > A]

p. [Ala300Ser]; [?]

2 (0.77)

2 (2/0)

-

-

2 (mHP)

0

3 R

R (31)

NR (0)

-

  

c. [912 + 1G > A]; [1055delG]

p. [?]; [Gly352Valfs*48]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

unk

-

 

NR

c. [912 + 1G > A]; [1315 + 1G > A]

p. [?]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [912 + 2 T > C]#; [1042C > G]

p. [?]; [Leu348Val]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

R (41)

-

  

c. [913-8A > G]#; [1315 + 1G > A]

p. [?]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

NR (0)

-

  

c. [1042C > G]; [1042C > G]

p. [Leu348Val]; [Leu348Val]

1 (0.38)

-

-

1 (1/0)

1 (cPKU)

0

3 PKU R

R (41)

R (41)

-

  

c. [1042C > G]; [1066-11G > A]

p. [Leu348Val]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (41)

NR (0)

-

  

c. [1042C > G]; [1169A > G]

p. [Leu348Val]; [Glu390Gly]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

3 R

R (41)

R (72.5)

-

  

c. [1042C > G]; [1222C > T]

p. [Leu348Val]; [Arg408Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (41)

NR (1)

-

  

c. [1045 T > C]; [1066-3C > T]

p. [Ser349Pro]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

R

-

  

c. [1045 T > C]; [1162G > A]

p. [Ser349Pro]; [Val388Met]

2 (0.77)

-

-

2 (1/1)

1 (cPKU) minus 72 %

1 (cPKU) minus 20 %

2 R; 4 cPKU NR

NR (1)

R (27.5)

-

  

c. [1045 T > C]; [1169A > G]

p. [Ser349Pro]; [Glu390Gly]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

5 R

NR (1)

R (72.5)

-

  

c. [1045 T > C]; [1243G > A]

p. [Ser349Pro]; [Asp415Asn]

1 (0.38)

1 (0/1)

-

-

0

1 (mHP)

 

NR (1)

R (93)

-

  

c. [1045 T > C]; [442-?_509 + ?del]

p. [Ser349Pro]:Ex5del]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (1)

unk

-

  

c. [1045 T > G]; [1045 T > G]

p. [Ser349Ala]; [Ser349Ala]

2 (0.77)

-

1 (1/0)

1 (0/1)

1 (mPKU) minus 71.5 %

1 (cPKU) minus 7 %

1 R

unk

unk

-

R

R

c. [1055delG]; [1055delG]

p. [Gly352Valfs*48]; [Gly352Valfs*48]

7 (2.68)

-

-

7 (0/7)

0

7 (7 cPKU)

 

unk

unk

-

NR

NR

c. [1055delG]; [1066-11G > A]

p. [Gly352Valfs*48]; [?]

2 (0.77)

-

-

2 (0/2)

0

2 (2 cPKU)

 

unk

NR (0)

-

NR

 

c. [1055delG]; [1208C > T]

p. [Gly352Valfs*48]; [Ala403Val]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

unk

R (32)

-

NR

 

c. [1065 + 1G > A]; [1169A > G]

p. [?]; [Glu390Gly]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

unk

R (72.5)

-

  

c. [1066-2A > T]#; [1169A > G]

p. [Glu390Gly]; [?]

1 (0.38)

-

-

-

1 ('unk)

0

no data

unk

R (72.5)

-

  

c. [1066-11G > A]; [1066-11G > A]

p. [?]; [?]

5 (1.915)

-

1 (0/1)

4 (1/3)

1 (cPKU) minus 31 %

4 (1 mPKU, 3 cPKU)

10 R; 74 NR

NR (0)

NR (0)

-

  

c. [1066-11G > A]; [1162G > A]

p. [?]; [Val388Met]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (0)

R (27.5)

-

  

c. [1066-11G > A]; [1196 T > C]#

p. [?]; [Val399Ala]

1 (0.38)

-

-

1 (1/0)

1 (cPKU) minus 97 %

0

no data

NR (0)

unk

-

 

R

c. [1066-11G > A]; [1199 + 1G > C]

p. [?]; [?]

3 (1.15)

-

1 (0/1)

2 (1/1)

1 (cPKU) minus 37.5 %

2 (mPKU, cPKU)

no data

NR (0)

unk

-

 

unclear

c. [1066-11G > A]; [1222C > T]

p. [?]; [Arg408Trp]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (0)

NR (1)

-

  

c. [1066-11G > A]; [1223G > A]

p. [?]; [Arg408Gln]

1 (0.38)

-

-

1 (1/0)

1 (cPKU)

0

no data

NR (0)

R (49.7)

-

  

c. [1066-11G > A]; [1241A > G]

p. [?]; [Tyr414Cys]

4 (1.53)

-

4 (3/1)

-

3 (mPKU)

1 (mPKU) minus 21 %

18 R; 2 NR

NR (0)

Ra (36)

-

  

c. [1066-11G > A]; [1315 + 1G > A]

p. [?]; [?]

3 (1.15)

-

-

3 (0/3)

0

3 (3 cPKU)

 

NR (0)

NR (0)

-

  

c. [1066-11G > A]; [510-?_706 + ?dup]#

p. [?]; [Ex6dup]

1 (0.38)

-

1 (0/1)

-

0

1 (mPKU)

 

NR (0)

unk

-

  

c. [1066-11G > A]; [?]

p. [?]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (0)

-

-

  

c. [1066-3C > T]; [1180G > T]#

p. [?]; [Asp394Tyr]

1 (0.38)

-

1 (0/1)

-

0

1 (mPKU)

 

R

unk

-

  

c. [1068C > G]; [1162G > A]

p. [Tyr356*]; [Val388Met]

1 (0.38)

-

-

1 (1/0)

1 (cPKU)

0

no data

NR (1)

R (27.5)

-

  

c. [1139C > T]; [1180G > T]#

p. [Thr380Met]; [Asp394Tyr]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

R

unk

-

  

c. [1139C > T]; [1-?_60 + ?del]#

p. [Thr380Met]; [Ex1del]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

R

unk

-

  

c. [1162G > A]; [1162G > A]

p. [Val388Met]; [Val388Met]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

R (27.5)

R (27.5)

-

  

c. [1162G > A]; [1169A > G]

p. [Val388Met]; [Glu390Gly]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

8 R

R (27.5)

R (72.5)

-

  

c. [1162G > A]; [1223G > A]

p. [Val388Met]; [Arg408Gln]

1 (0.38)

-

-

1 (1/0)

1 (cPKU)

0

no data

R (27.5)

R (49,7)

-

  

c. [1163 T > C]#; [1208C > T]

p. [Val388Ala]; [Ala403Val]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

unk

R (32)

-

  

c. [1169A > G]; [1241A > G]

p. [Glu390Gly]; [Tyr414Cys]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

no data

R (72.5)

Ra (36)

-

  

c. [1169A > G]; [?]

p. [Glu390Gly]; [?]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

 

R (72.5)

-

-

  

c. [1199 + 1G > C]; [1199 + 1G > C]

p. [?]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

unk

unk

-

  

c. [1208C > T]; [1222C > T]

p. [Ala403Val]; [Arg408Trp]

2 (0.77)

1 (1/0)

1 (1/0)

-

2 (mHP, mPKU)

0

6 R

R (32)

NR (1)

-

  

c. [1208C > T]; [1315 + 1G > A]

p. [Ala403Val]; [?]

1 (0.38)

1 (1/0)

-

-

1 (mHP)

0

9 R

R (32)

NR (0)

-

  

c. [1222C > T]; [1222C > T]

p. [Arg408Trp]; [Arg408Trp]

5 (1.915)

-

-

5 (0/5)

0

5 (5 cPKU)

 

NR (1)

NR (1)

-

  

c. [1222C > T]; [1223G > A]

p. [Arg408Trp]; [Arg408Gln]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

NR (1)

R (49.7)

-

  

c. [1222C > T]; [1241A > G]

p. [Arg408Trp]; [Tyr414Cys]

5 (1.915)

-

4 (2/2)

1 (0/1)

2 (mPKU) minus 43 %, minus 66 %

3 (2 mPKU, 1cPKU)

30 R; 6 NR

NR (1)

Ra (36)

-

  

c. [1222C > T]; [1315 + 1G > A]

p. [Arg408Trp]; [?]

3 (1.15)

-

-

3 (0/3)

0

3 (3 cPKU)

 

NR (1)

NR (0)

-

  

c. [1222C > T]; [?]

p. [Arg408Trp]; [?]

1 (0.38)

-

1 (0/1)

-

0

1 (mPKU)

 

NR (1)

-

-

  

c. [1223G > A]; [1241A > G]

p. [Arg408Gln]; [Tyr414Cys]

2 (0.77)

1 (1/0)

-

1 (1/0)

2 (mHP, cPKU)

0

6 R

R (49.7)

Ra (38,5)

-

  

c. [1241A > G]; [1315 + 1G > A]

p. [Tyr414Cys]; [?]

3 (1.15)

-

1 (1/0)

2 (1/1)

2 (mPKU, cPKU) minus 34 %, minus 39 %

1 (cPKU) minus 21 %

24 PKU R; 1 PKU NR

Ra (36)

NR (0)

-

  

c. [1241A > G]; [169-?_352 + ?del]

p. [Tyr414Cys]; [Ex3del]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

Ra (36)

unk

-

  

c. [1243G > A]; [169-?_352 + ?del]

p. [Asp415Asn]; [Ex3del]

1 (0.38)

-

1 (1/0)

-

1 (mPKU)

0

no data

R (93)

unk

-

  

c. [1249 T > A]; [1315 + 1G > A]

p. [Tyr417Asn]; [?]

1 (0.38)

-

1 (1/0)

-

1 (mPKU) minus 37 %

0

no data

unk

NR (0)

-

unclear

 

c. [1315 + 1G > A]; [1-?_60 + ?del]#

p. [?]; [Ex1del]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

NR (0)

unk

-

  

c. [?]; [?]

p. [?]; [?]

1 (0.38)

-

-

1 (0/1)

0

1 (cPKU)

 

-

-

-

  
  1. Freq frequency, MLPA multiplex ligation-dependent probe amplification, mut mutation, NR non responsive, PRA predicted residual activity, R responsive, unclear BH4-response rate comprised between 30 and 40 %, unk unknown, * indicates a stop codon
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172