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Table 1 Spectrum and frequency of PAH mutations identified in 39 patients

From: Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria

Systematic name (DNA level)

Trivial name (protein effect)

Location

Mutation type

Number of alleles

Frequency (%)

c.168+5G>A

IVS2+5G>A

Intron 2

Splicing

2

2.56

c.168+5G>C

IVS2+5G>C

Intron 2

Splicing

2

2.56

c.143T>C

p.L48S

Exon 2

Missense

2

2.56

c.526C>T

p.R176X

Exon 6

Nonsense

8

10.25

c.632delC

p.P211>Hfs

Exon 6

deletion

2

2.56

c.838G>A

p.E280K

Exon 7

Missense

2

2.56

c.782G>A

p.R261Q

Exon 7

Missense

6

7.69

c.842C>T

p.P281L

Exon 7

Missense

8

10.25

c.781C>T

p.R261X

Exon 7

Nonsense

4

5.12

c.755G>A

p.R252Q

Exon 7

Missense

4

5.12

c.728G>A

p.R243Q

Exon 7

Missense

2

2.56

c.848T>A

p.I283N

Exon 8

Missense

2

2.56

c.969+1G>A

IVS9+1G>A

Intron 9

Splicing

1

1.28

c.969+5G>A

IVS9 +5G>A

Intron 9

Splicing

2

2.56

c.1199+1G>C

IVS11+1G>C

Intron 11

Splicing

1

1.28

c.1069T>C

p.C357R

Exon 11

Missense

1

1.28

Total (number of alleles identified)

   

49

74.3

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