Correction

Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be “p.Ser339Phe c.1016C>T” (as given in Number 117 of Additional file 2). Other errors were found in the original Additional file 2, which has been replaced with an updated version (see below).

Additional file 2. Spectrum of PAH gene variants in a Chinese Han population

Number

Trivial name

(Protein effect)

Systematic name

(DNA level)

Location

Variant type

Allele frequency

(%)

1

p.S16*

c.47-48delCT

Exon 1

Deletion

0.2

2

—

c.61-3T>C

Intron 1

Splicing

0.1

3

p.Arg53His

c.158G>A

Exon 2

Missense

4.7

4

p.Arg53Cys

c.157C>T

Exon 2

Missense

0.1

5

p.Glu44del

c.131-133delAAG

Exon 2

Deletion

0.2

6

p.Glu56Asp

c.168G>T

Exon 2

Missense

0.1

7

—

c.168+2T>C

Intron 2

Splicing

0.1

8

—

c.168+5G>C

Intron 2

Splicing

0.1

9

p.Ile65Thr

c.194T>C

Exon 3

Missense

0.5

10

p.Ile65Ser

c.194T>G

Exon 3

Missense

0.2

11

p.Ser70del

c.208-210delTCT

Exon 3

Deletion

2.5

12

p.Asp75His △

c.223G>C

Exon 3

Missense

0.1

13

p.Tyr77*

c.231T>G

Exon 3

Nonsense

0.1

14

p.Ile94Val △

c.280A>G

Exon 3

Missense

0.1

15

p.Asp101Asn

c.301G>A

Exon 3

Missense

0.3

16

p.Gly103Asp

c.308G>A

Exon 3

Missense

0.2

17

p.His107Arg

c.320A>G

Exon 3

Missense

1.8

18

p.Arg111*

c.331C>T

Exon 3

Nonsense

4.4

19

p.Glu78Phefs*13

c.232-235delGAAT

Exon 3

Deletion

0.1

20

p.Ile95del

c.284-286deTCA

Exon 3

Deletion

0.1

21

IVS3-2A>G

c.353-2A>G

Intron3

Splicing

0.1

22

p.Pro147Leu

c.440C>T

Exon 4

Missense

0.2

23

—

c.441+1G>A

Intron 4

Splicing

0.1

24

—

c.441+3G>C

Intron 4

Splicing

0.4

25

—

c.442-1G>A

Intron 4

Splicing

3.4

26

—

c.442-1G>C

Intron 4

Splicing

0.1

27

—

c.442-14C>T △

Intron 4

Splicing

0.1

28

p.Tyr154*△

c.462C>A

Exon 5

Nonsense

0.1

29

p.Arg155His

c.464G>A

Exon 5

Missense

0.2

30

p.Arg156Pro

c.466G>C

Exon 5

Missense

0.2

31

p.Arg158Trp

c.472C>T

Exon 5

Missense

0.5

32

p.Arg158Gln

c.473G>A

Exon 5

Missense

0.5

33

p.Gln160*

c.478 C>T

Exon 5

Nonsense

0.2

34

p.Phe161Ser

c.482T>C

Exon 5

Missense

1.0

35

p.Ala165Asp

c.494C>A

Exon 5

Missense

0.1

36

p.Tyr166*

c.498C>G

Exon 5

Nonsense

0.6

37

p.Arg169Ser

c.505C>A

Exon 5

Missense

0.1

38

p.Arg169Cys

c.505C>T

Exon 5

Missense

0.2

39

p.Arg169His

c.506G>A

Exon 5

Missense

0.1

40

p.His170Arg

c.509A>G

Exon 5

Missense

0.1

41

p.His170Gln

c. 510T>A

Exon 5

Missense

0.3

42

p.Arg155Valfs*40 △

c.463delC

Exon 5

Deletion

0.1

43

—

c.509+1G>A

Intron 5

Splicing

0.1

44

—

c.510-1G>A

Intron 5

Splicing

0.1

45

—

c.510-1G>C

Intron 5

Splicing

0.1

46

p.Gly171Arg

c.511G>A

Exon 6

Missense

0.1

47

p.Gln172His

c.516G>T

Exon 6

Missense

0.1

48

p.Arg176*

c.526C>T

Exon 6

Nonsense

2.0

49

p.Glu178Lys

c.532 G>A

Exon 6

Missense

0.1

50

p.Glu183Gly

c.548A>G

Exon 6

Missense

0.1

51

p.Trp187*

c.561G>A

Exon 6

Nonsense

0.1

52

p.Trp187Arg

c.559T>C

Exon 6

Missense

0.1

53

p.Gly188Val △

c.563G>T

Exon 6

Missense

0.1

54

p.His201Arg

c.602A>G

Exon 6

Missense

0.1

55

p.Cys203Ser △

c.607T>A

Exon 6

Missense

0.1

56

p. Ex6-96A>G

c.611A>G

Exon 6

Splicing

0.1

57

p.Cys217Tyr

c.650G>A

Exon 6

Missense

0.1

58

p.Ile224Thr

c.671T>C

Exon 6

Missense

0.4

59

p.Leu227Val △

c.679C>G

Exon 6

Missense

0.1

60

p.Glu228Asp △

c.684A>C

Exon 6

Missense

0.1

61

p.Val230Ile

c.688G>A

Exon 6

Missense

0.5

62

p.Val230A

c.689T>C

Exon 6

Missense

0.1

63

p.Gln232*

c.694C>T

Exon 6

Nonsense

0.2

64

p.Phe233Leu

c.699C>A

Exon 6

Missense

0.2

65

p.Leu194Glufs*6 △

c.580C>GA

Exon 6

Indel

0.1

66

p.Ser231Valfs*52 △

c.690-691insG

Exon 6

Insertion

0.1

67

—

c.707-1G>A

Intron 6

Splicing

0.2

68

p.Arg241Cys

c.721C>T

Exon 7

Missense

4.6

69

p.Arg241His

c.722G>A

Exon 7

Missense

0.4

70

p.Arg241Leu

c.722G>T

Exon 7

Missense

0.1

71

p.Leu242Phe

c.724C>T

Exon 7

Missense

0.2

72

p.Arg243Gln

c.728G>A

Exon 7

Missense

17.7

73

p.Arg243*

c.727C>T

Exon 7

Nonsense

0.1

74

p.Val245Met

c.733G>A

Exon 7

Missense

0.1

75

p.Gly247Val

c.740G>T

Exon 7

Missense

1.5

76

p.Gly247Arg

c.739G>C

Exon 7

Missense

0.7

77

p.Ser250Phe △

c.749C>T

Exon 7

Missense

0.1

78

p.Arg252Gln

c.755G>A

Exon 7

Missense

0.6

79

p.Arg252Trp

c.754C>T

Exon 7

Missense

0.3

80

p.Arg252Gly

c. 754C>G

Exon 7

Missense

0.1

81

p.Arg252Pro

c.755G>C

Exon 7

Missense

0.1

82

p.Leu255Ser

c.764T>C

Exon 7

Missense

0.4

83

p.Gly257Val

c.770G>T

Exon 7

Missense

0.6

84

p.Arg261Gln

c.782G>A

Exon 7

Missense

1.7

85

p.Arg261*

c.781C>T

Exon 7

Nonsense

0.1

86

p.Phe263Leu

c.787T>C

Exon 7

Missense

0.1

87

p.Gln267Glu

c.799C>G

Exon 7

Missense

0.2

88

p.Tyr268* △

c.804C>A

Exon 7

Nonsense

0.1

89

p.Arg270Lys

c.809G>A

Exon 7

Missense

0.2

90

p.Arg270Ile

c. 809G>T

Exon 7

Missense

0.1

91

p.His271Arg

c.812A>G

Exon 7

Missense

0.1

92

p.Pro275Leu

c.824C>T

Exon 7

Missense

0.2

93

p.Met276Lys

c.827T>A

Exon 7

Missense

0.2

94

p.Met276Arg

c.827T>G

Exon 7

Missense

0.1

95

p.Thr278Ile

c.833C>T

Exon 7

Missense

0.1

96

p.Glu280Lys

c.838G>A

Exon 7

Missense

0.4

97

p.Pro281Arg

c.842C>G

Exon 7

Missense

0.1

98

p.Arg241Profs*100

c.722delG

Exon 7

Deletion

0.5

99

—

c.842+1G>A

Intron 7

Splicing

0.2

100

—

c.843-1G>A

Intron 7

Splicing

0.2

101

—

c.842+2T>A

Intron 7

Splicing

1.5

102

p.Val291Met

c.871G>A

Exon 8

Missense

0.1

103

p.Ala300Ser

c.898G>T

Exon 8

Missense

0.1

104

p.Ser303Pro

c.907T>C

Exon 8

Missense

0.1

105

p.Ser303Profs*38

c.907delT

Exon 8

Deletion

0.1

106

—

c.912+1G>A

Intron 8

Splicing

0.1

107

—

c.912+16T>A △

Intron 8

Splicing

0.1

108

—

c.913-7A>G

Intron 8

Splicing

0.2

109

p.Ser310Phe

c.929C>T

Exon 9

Missense

0.1

110

p.Ser310Cys △

c.929C>G

Exon 9

Missense

0.1

111

p.Gly312Val

c.935G>T

Exon 9

Missense

0.1

112

p.Pro314Thr

c.940C>A

Exon 9

Missense

0.4

113

p.Ala322Thr

c.964G>A

Exon 9

Missense

0.2

114

p.Ile324Asn

c.971T>A

Exon 10

Missense

0.4

115

p.Trp326*

c.977G>A

Exon 10

Nonsense

0.2

116

p.Phe331Ser

c.992T>C

Exon 10

Missense

0.1

117

p.Ser339Phe △

c.1016C>T

Exon 10

Missense

0.1

118

p.Lys341Asn △

c.1023G>C

Exon 10

Missense

0.1

119

p.Ala342Hisfs*58

c.1024delG

Exon 10

Deletion

0.1

120

p.Gly344Asp

c.1031G>A

Exon 10

Missense

0.1

121

p.Gly344Ser

c.1030G>A

Exon 10

Missense

0.1

122

p.Ala345Thr

c.1033G>A

Exon 10

Missense

0.1

123

p.Ser349Ala

c.1045T>G

Exon 10

Missense

0.4

124

p.Gly352Arg

c.1054G>C

Exon 10

Missense

0.1

125

p.Gln355*

c.1063C>T

Exon 10

Nonsense

0.1

126

—

c.1066-1G>T

Intron 10

Splicing

0.2

127

—

c.1066-11G>A

Intron 10

Splicing

0.1

128

—

c.1066-13delT △

Intron 10

Splicing

0.1

129

—

c.1066-14C>G

Intron 10

Splicing

0.1

130

p.Tyr356*

c.1068C>A

Exon 11

Nonsense

4.7

131

p.Cys357*

c.1071C>A

Exon 11

Nonsense

0.1

132

p.Pro362Ser △

c.1084C>T

Exon 11

Missense

0.1

133

p.Pro362Thr

c.1084C>A

Exon 11

Missense

0.1

134

p.Lys363Asn

c.1089G>T

Exon 11

Missense

0.2

135

p.Pro366Ala △

c.1096C>G

Exon 11

Missense

0.1

136

p.Thr372Ser

c.1114A>T

Exon 11

Missense

0.1

137

p.Thr372Arg

c.1115 C>G

Exon 11

Missense

0.1

138

p.Ala373Thr

c.1117G>A

Exon 11

Missense

0.1

139

p.Gln375Glu

c.1123C>G

Exon 11

Missense

0.3

140

p.Thr380Met

c.1139C>T

Exon 11

Missense

0.2

141

p.Val388Met

c.1162G>A

Exon 11

Missense

0.1

142

p.Ser391Thr

c.1172G>C

Exon 11

Missense

0.1

143

p.Phe392Ile

c.1174T>A

Exon 11

Missense

0.4

144

p.Lys398=

c.1194A>G

Exon 11

Splicing

0.1

145

p.Val399=

c.1197A>T

Exon 11

Splicing

6.4

146

p.Arg400Thr

c.1199G>C

Exon 11

Missense

0.5

147

p.Arg400Lys

c.1199G>A

Exon 11

Missense

0.2

148

—

c.1199+1G>C

Intron11

Splicing

0.2

149

—

c.1199+2T>C

Intron 11

Splicing

0.2

150

—

c.1200-1G>C

Intron 11

Splicing

0.1

151

—

c.1200-1G>A

Intron 11

Splicing

0.2

152

—

c.1200-3T>G △

Intron11

Splicing

0.2

153

p.Ala403Val

c.1208C>T

Exon 12

Missense

1.0

154

p.Arg408Trp

c.1222C>T

Exon 12

Missense

0.4

155

p.Arg408Gln

c.1223G>A

Exon 12

Missense

0.6

156

p.Arg413Pro

c.1238G>C

Exon 12

Missense

4.6

157

p.Tyr414*

c.1242C>A

Exon 12

Nonsense

0.1

158

p.Asp415Tyr

c.1243G>T

Exon 12

Missense

0.1

159

p.Thr418Pro

c.1252A>C

Exon 12

Missense

0.6

160

p.Gln419Arg

c.1256A>G

Exon 12

Missense

0.7

161

p.Ile421Thr

c.1262T>C

Exon 12

Missense

0.2

162

p.Gln429Lys

c.1285C>A

Exon 12

Missense

0.1

163

p.Leu430Pro

c.1289T>C

Exon 12

Missense

0.2

164

p.Ala434Asp

c.1301C>A

Exon 12

Missense

1.7

165

—

c.1315+4A>G

Intron 12

Splicing

0.1

166

—

c.1315+6T>A

Intron 12

Splicing

0.3

167

—

c.1316-2A>C

Intron 12

Splicing

0.2

168

p.Leu444Phe △

c.1330C>T

Exon 13

Missense

0.1

169

p.*453Proext*33

c.1357delTAAAG

Exon 13

Deletion

0.1

170

 

5’ UTR

~E1

Deletion

0.6

171

c.(168+1_169-1)_c. (352+1_353-1)del

E3

Deletion

0.1

172

c. (441+1_442-1)_(842+1_843-1)del

E4~E7

Deletion

0.1

173

c. (441+1_442-1) _c. (509+1_510-1)del

E5

Deletion

0.1

174

c. (441+1_442-1)_(509+1_510-1)del

E4~E5

Deletion

0.2

Detected

96.6

Unknown

3.4

Total

100

  1. △Novel alleles identified in the current study.