Suppl. Table 1

Disease causing mutations of the PAH Gene (GenBank U49897.1, NM_000277) and information on phenotype as well as newborn phenylalanine (phe) levels of 147 unrelated Austrian patients with PAH deficiency(PKU; MIM 261600) included in this study.

- = data not available

Novel mutations are indicated in italic print;

nr. / Allele 1 / Allele 2 / Age / Phenotype / Intial phe / Population
cDNA / Effect / cDNA 2 / Effect / (years) / µmol/l / background
1 / c.1169A>G / p.E390G / c.1222C>T / p.R408W / 18 / PKU / 612 / Austria
2 / c.754C>T / p.R252W / c.1222C>T / p.R408W / 1 / PKU / 1800 / Austria
3 / c.843-5T>C / IVS7-5T>C / c.843-5T>C / IVS7-5T>C / 5 / PKU / 1080 / Turkey
4 / c.473G>A / p.R158Q / c.842C>T / p.P281L / 20 / PKU / 2400 / Yugoslavia
5 / c.842+1G>A / IVS7+1G>A / c.1315+1G>A / IVS12+1G>A / 8 / PKU / 1200 / Austria
6 / unknown / unknown / c.842+1G>A / IVS12+1G>A / 20 / PKU / 1020 / Austria
7 / c.168+5G>C / IVS2+5G>C / c.1315+1G>A / IVS12+1G>A / 33 / PKU / - / Austria
8 / c.441+5G>T / IVS4+5G>T / c.727C>T / p.R243X / 15 / PKU / - / Austria
9 / c.730C>T / p.R243X / c.1130A>G / p.Y377C / 13 / PKU / 756 / Austria
10 / c.441+5G>T / IVS4+5G>T / c.1169A>G / p.E390G / 40 / MHP / - / Austria
11 / c.143T>C / p.L48S / c.1066-11G>A / IVS10-11G>A / 7 / PKU / 420 / Bosnia
12 / c.1184C>G / p.A395G / c.1222C>T / p.R408W / 7 / PKU / 240 / Austria
13 / c.1222C>T / p.R408W / c.1222C>T / p.R408W / 12 / PKU / - / Serbia
14 / c.1066-11G>A / IVS10-11G>A / c.1315+1G>A / IVS12+1G>A / 10 / PKU / 120 / Austria
15 / c.912+1G>A / IVS8+1G>A / c.1222C>T / p.R408W / 17 / PKU / - / Germany
16 / c.143T>C / p.L48S / c.916A>G / p.I306V / 6 / MHP / 150 / Yugoslavia
17 / c.1315+1G>A / IVS12+1G>A / c.1315+1G>A / IVS12+1G>A / 8 / PKU / - / Austria
18 / c.1066-11G>A / IVS10-11G>A / c.1066-11G>A / IVS10-11G>A / 19 / PKU / 1080 / Turkey
19 / c.168+5G>C / IVS2+5G>C / c.1162G>A / p.V388M / 26 / PKU / 720 / Austria
20 / c.311C>A / p.A104D / c.782G>A / p.R261Q / 15 / PKU / 600 / Austria
21 / c.1066-7C>A / IVS10-7C>A / c.1066-7C>A / IVS10-7C>A / 1 / PKU / 720 / Turkey
22 / c.473G>A / p.R158Q / c.1169A>G / p.E390G / 3 / PKU / 210 / Austria
23 / c.1169A>G / p.E390G / c.1222C>T / p.R408W / 4 / PKU / 720 / Austria
24 / c.842C>T / p.P281L / c.1159T>C / p.Y387H / 41 / PKU / 1800 / Austria
25 / c.782G>A / p.R261Q / c.842+1G>A / IVS12+1G>A / 29 / PKU / 720 / Austria
26 / c.386A>G / p.D129G / c.1208C>T / p.A403V / 11 / PKU / 192 / Austria
27 / c.194T>C / p.I65T / c.1066-3C>T / IVS10-3C>T / 32 / PKU / - / Austria
28 / c.331C>T / p.R111X / c.721C>T / p.R241C / 4 / PKU / - / unknown
29 / c.782G>A / p.R261Q / c.1183G>C / p.A395P / 18 / PKU / - / Austria
30 / c.868C>T / p.H290Y / c.1222C>T / p.R408W / 40 / PKU / - / Austria
31 / c.842C>T / p.P281L / c.847A>T / p.I283F / 18 / PKU / 720 / Austria
32 / c.143T>C / p.L48S / c.809G>A / p.R270K / 21 / PKU / 1218 / Austria
33 / c.1169A>G / p.E390G / c.1222C>T / p.R408W / 10 / PKU / 840 / Austria
34 / c.842C>T / p.R408W / c.842+1G>A / IVS12+1G>A / 25 / PKU / 2400 / Austria
35 / c.782G>A / p.R261Q / c.1222C>T / p.R408W / 14 / PKU / 1164 / Austria
36 / c.441+6T>A / IVS4+6T>A / c.1315+1G>A / IVS12+1G>A / 23 / PKU / 1200 / Austria
37 / c.1159T>C / p.Y387H / c.1222C>T / p.R408W / 4 / PKU / - / Austria
38 / c.1315+1G>A / IVS12+1G>A / c.1315+1G>A / IVS12+1G>A / 43 / PKU / - / Austria
39 / c.916A>G / p.I306V / c.1222C>T / p.R408W / 7 / MHP / 378 / Austria
40 / c.782G>A / p.R261Q / c.1222C>T / p.R408W / 12 / PKU / 1920 / Austria
41 / c.1241A>G / p.Y414C / c.1241A>G / p.Y414C / 18 / PKU / 300 / Austria
42 / c.782G>A / p.R261Q / c.1222C>T / p.R408W / 22 / PKU / - / Austria
43 / c.165delT / p.F55fs / c.1208C>T / p.A403V / 41 / MHP / - / Austria
44 / c.782G>A / p.R261Q / c.1208C>T / p.A403V / 12 / PKU / 366 / Austria
45 / c.1315+1G>A / IVS12+1G-A / c.1315+1G>A / IVS12+1G>A / 10 / PKU / 2052 / Austria
46 / c.473G>A / p.R158Q / c.913-2A>G / IVS8-2A>G / 32 / PKU / 720 / Austria
47 / c.473G>A / p.R158Q / c.473G>A / p.R158Q / 14 / PKU / 600 / Serbia
48 / c.1222C>T / p.R408W / c.1241A>G / p.Y414C / 19 / PKU / 744 / Austria
49 / c.842C>T / p.P281L / c.1222C>T / p.R408W / 17 / PKU / 720 / Austria
50 / c.1066-3C>T / IVS10-3C>T / c.1208C>T / p.A403V / 8 / MHP / 204 / Austria
51 / c.1222C>T / p.R408W / c.1222C>T / p.R408W / 8 / PKU / 450 / Turkey
52 / c.727C>T / p.R243X / c.1066-11G>A / IVS10-11G>A / 13 / PKU / 720 / Turkey
53 / c.473G>A / p.R158Q / c.1222C>T / p.R408W / 16 / PKU / 2400 / Austria
54 / c.782G>A / p.R261Q / c.1222C>T / p.R408W / 2 / PKU / 660 / Austria
55 / c.283_285delATC / p.I95del / c.1222C>T / p.R408W / 45 / PKU / 360 / Austria
56 / c.1159T>C / p.Y387H / c.1315+1G>A / IVS12+1G>A / 8 / PKU / 1584 / Austria
57 / c.842C>T / p.P281L / c.782G>A / p.R408W / 15 / PKU / 1200 / Austria
58 / c.592_613del / p.L197fs / c.1222C>T / p.R408W / 15 / PKU / 1440 / Turkey
59 / c.913-2A>G / IVS8-2A>G / c.842+1G>A / IVS12+1G>A / 23 / PKU / 720 / Austria
60 / c.398_401del / p.N133fs / c.1066-3C>T / IVS10-3C>T / 17 / PKU / 2130 / Austria
61 / c.1315+1G>A / IVS12+1G>A / c.1315+1G>A / IVS12+1G>A / 9 / PKU / 1140 / Austria
62 / c.1241A>G / p.Y414C / c.1315+1G>A / IVS12+1G>A / 22 / PKU / 1200 / Austria
63 / c.782G>A / p.R261Q / c.1222C>T / p.R408W / 17 / PKU / 900 / Austria/Netherlands
64 / c.441+5G>T / IVS4+5G>T / c.1222C>T / p.R408W / 15 / PKU / 900 / Austria
65 / c.1066-11G>A / IVS10-11G>A / c.1066-11G>A / IVS10-11G>A / 8 / PKU / 1224 / Turkey
66 / c.1066-3C>T / IVS10-3C>T / c.1222C>T / p.R408W / 33 / PKU / - / Austria
67 / c.529G>C / p.V177L / c.1222C>T / p.R408W / 30 / MHP / - / Austria
68 / c.168+5G>C / IVS2+5G>C / c.1222C>T / p.R408W / 24 / PKU / 720 / Austria
69 / c.965C>T / p.A322V / c.1222C>T / p.R408W / 27 / PKU / 240 / Austria
70 / c.1066-11G>A / IVS10-11G>A / c.1066-11G>A / IVS10-11G>A / 7 / PKU / 300 / Austria
71 / c.168+5G>C / IVS2+5G>C / c.1222C>T / p.R408W / 19 / PKU / 1200 / Austria
72 / c.782G>A / p.R261Q / c.1222C>T / p.R408W / 14 / PKU / 600 / Austria
73 / c.1222C>T / p.R408W / c.1222C>T / p.R408W / 16 / PKU / 2292 / Austria
74 / c.844G>A / p.D282N / c.1222C>T / p.R408W / 23 / PKU / 2460 / Austria
75 / c.441+1G>A / IVS4+1G>A / c.1222C>T / p.R408W / 2 / PKU / 1984,9 / Austria
76 / c.1222C>T / p.R408W / c.1222C>T / p.R408W / 35 / lost to follow up / - / Austria
77 / c.117C>G / p.F39L / c.1262T>G / p.I421S / 10 / PKU / 780 / Austria
78 / c.842C>T / p.P281L / c.974A>G / p.Y325C / 19 / PKU / 480 / Austria
79 / c.1315+1G>A / IVS12+1G>A / c.1315+1G>A / IVS12+1G>A / 4 / PKU / 3000 / Austria
80 / c.1222C>T / p.R408W / c.1222C>T / p.R408W / 8 / PKU / 2106 / Austria
81 / c.814G>T / p.G272X / unknown / unknown / 3 / PKU / 2270,5 / Austria
82 / c.842C>T / p.P281L / c.1315+1G>A / IVS12+1G>A / 47 / PKU / - / Austria
83 / c.143T>C / p.L48S / c.143T>C / p.L48S / 7 / PKU / 120 / Turkey
84 / c.165delT / p.F55fs / c.1183G>C / p.A395P / 25 / PKU / 1500 / Austria
85 / c.1169A>G / p.E390G / c.1222C>T / p.R408W / 2 / PKU / 336 / Austria
86 / c.168+5G>C / IVS2+5G>C / c.168+5G>C / IVS2+5G>C / 13 / PKU / 1080 / Austria
87 / c.1169A>G / p.E390G / c.1169A>G / p.E390G / 8 / MHP / 240 / Turkey
88 / c.1315+1G>A / IVS12+1G>A / c.1315+1G>A / IVS12+1G>A / 33 / PKU / 720 / Austria
89 / c.782G>A / p.R261Q / c.782G>A / p.R261Q / 13 / PKU / 1122 / Austria
90 / c.331C>T / p.R111X / c.331C>T / p.R111X / 18 / PKU / - / Romania
91 / c.782G>A / p.R261Q / c.1222C>T / p.R408W / 3 / PKU / 2058 / Austria
92 / c.1184C>G / p.A395G / c.1222C>T / p.R408W / 37 / PKU / 720 / Austria
93 / c.165delT / p.F55fs / c.1066-3C>T / IVS10-3C>T / 16 / PKU / 2220 / Austria
94 / c.194T>C / p.I65T / c.1222C>T / p.R408W / 33 / PKU / - / Austria
95 / c.441+6T>A / IVS4+6T>A / c.842C>T / p.P281L / 19 / PKU / 900 / Austria
96 / c.441+5G>T / IVS4+5G>T / c.1222C>T / p.R408W / 13 / PKU / 2280 / Austria
97 / c.1222C>T / p.R408W / c.1222C>T / p.R408W / 5 / PKU / 840 / Austria
98 / c.168+5G>C / IVS2+5G>C / c.194T>C / p.I65T / 24 / PKU / 360 / Austria
99 / c.473G>A / p.R158Q / c.1222C>T / p.R408W / 27 / PKU / - / Austria
100 / c.194T>C / p.I65T / c.782G>A / p.R261Q / 26 / PKU / 720 / Austria
101 / c.1066-3C>T / IVS10-3C>T / c.1222C>T / p.R408W / 51 / lost to follow up / - / Austria
102 / c.473G>A / p.R158Q / c.1066-11G>A / IVS10-11G>A / 15 / PKU / 1200 / Austria
103 / c.473G>A / p.R158Q / c.814G>T / p.G272X / 14 / PKU / 840 / Austria
104 / c.473G>A / p.R158Q / c.781C>T / p.R261X / 14 / PKU / 2046 / Austria
105 / c.782G>A / p.R261Q / c.842C>T / p.P281L / 14 / PKU / 360 / Austria
106 / unknown / unknown / c.1169A>G / p.E390G / 14 / PKU / 420 / Turkey
107 / c.1241A>G / p.Y414C / c.1315+1G>A / IVS12+1G>A / 19 / PKU / 480 / Austria
108 / c.782G>A / p.R261Q / c.1222C>T / p.R408W / 26 / PKU / 720 / Austria
109 / c.1222C>T / p.R408W / c.1223G>A / p.R408Q / 2 / PKU / - / Austria
110 / c.165delT / p.F55fs / c.1315+1G>A / IVS12+1G>A / 23 / PKU / 720 / Austria
111 / c.1222C>T / p.R408W / c.1241A>G / p.Y414C / 13 / PKU / 2304 / Austria
112 / c.913-7A>G / IVS8-7A>G / c.1241A>G / p.Y414C / 9 / PKU / 1062 / Austria
113 / c.1066-3C>T / IVS10-3C>T / c.1315+1G>A / IVS12+1G>A / 18 / PKU / 1080 / Austria
114 / c.716G>T / p.G239V / c.1208C>T / p.A403V / 5 / MHP / 216 / Austria
115 / c.168+5G>C / IVS2+5G>C / c.1066-3C>T / IVS10-3C>T / 29 / PKU / - / Austria
116 / c.168+5G>C / IVS2+5G>C / c.193A>G / p.I65V / 17 / PKU / 426 / Austria
117 / c.913-2A>G / IVS8-2A>G / c.1222C>T / p.R408W / 15 / PKU / 2376 / Austria
118 / c.781C>T / p.R261X / c.781C>T / p.R261X / 2 / PKU / 1320 / Chechenia
119 / c.526C>T / p.R176X / c.1169A>G / p.E390G / 10 / MHP / 360 / Turkey
120 / c.1222C>T / p.R408W / c.1315+1G>A / IVS12+1G>A / 38 / PKU / 480 / Austria
121 / c.473G>A / p.R158Q / c.782G>A / p.R261Q / 3 / PKU / - / Austria
122 / c.311C>A / p.A104D / c.473G>A / p.R158Q / 8 / MHP / 450 / Austria
123 / c.734T>C / p.V245A / c.1241A>G / p.Y414C / 3 / MHP / - / Austria
124 / c.283_285delATC / p.I95del / c.1222C>T / p.R408W / 24 / PKU / - / Austria
125 / c.473G>A / p.R158Q / c.727C>T / p.R243X / 10 / PKU / 1140 / Austria
126 / c.1222C>T / p.R408W / c.1315+1G>A / IVS12+1G>A / PKU / - / Austria
127 / c.842C>T / p.P281L / c.1222C>T / p.R408W / PKU / - / Austria
128 / c.782G>A / p.R261Q / c.1222C>T / p.R408W / PKU / - / Austria
129 / c.1222C>T / p.R408W / c.1222C>T / p.R408W / 10 / PKU / 1464 / Austria
130 / c.165delT / p.F55fs / c.1222C>T / p.R408W / 6 / PKU / - / Austria
131 / c.782G>A / p.R261Q / c.1222C>T / p.R408W / 2 / PKU / 360 / Austria
132 / c.168+5G>C / IVS2+5G>C / c.1066-11G>A / IVC10-11G>A / 33 / PKU / 720 / Austria
133 / c.1241A>G / p.Y414C / c.1241A>G / p.Y414C / 18 / PKU / 480 / Tunisia
134 / c.520A>G / p.I174V / c.1241A>G / p.Y414C / 7 / PKU / 246 / Austria
135 / c.165delT / p.F55fs / c.563G>A / p.G188D / 29 / PKU / 720 / Austria
136 / c.1222C>T / p.R408W / c.1222C>T / p.R408W / 9 / PKU / 480 / Austria
137 / c.266_267insC / p.P89fs / c.822_832del / p.K274_Y277fs / 25 / PKU / 480 / Austria
138 / c.165delT / p.F55fs / c.913-7A>G / IVS8-7A>G / 22 / PKU / - / Austria
139 / c.1222C>T / p.R408W / c.842+1G>A / IVS12+1G>A / 19 / PKU / - / Slovakia
140 / c.842+1G>A / IVS12+1G>A / c.842+1G>A / IVS12+1G>A / 29 / PKU / 1200 / Austria
141 / c.842+1G>A / IVS12+1G>A / c.842+1G>A / IVS12+1G>A / 38 / PKU / 720 / Austria
142 / unknown / unknown / c.1315+1G>A / IVS12+1G>A / 2 / PKU / 648 / Austria
143 / c.898G>T / p.A300S / c.1199+1G>C / IVS11+1G>C / 2 / MHP / 180 / Turkey
144 / c.169_171del / p.E57del / c.169_171del / p.E57del / 17 / PKU / 720 / Palestine
145 / c.168+5G>C / IVS2+5G>C / c.168+5G>C / IVS2+5G>C / 9 / PKU / 1350 / Turkey
146 / c.754C>G / p.R252G / c.782G>A / p.R261Q / 19 / PKU / 720 / Austria
147 / c.1222C>T / p.R408W / c.1222C>T / p.R408W / 2 / PKU / 1020 / Austria