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Table 1 Mutations found in the GNPTAB, GNPTG and NAGPA genes in stuttering (Kang et al. 2010)

From: Genetic approaches to understanding the causes of stuttering

 

Mutation

Amino acid change

Number of mutation carriers

Pakistani stutterers (N = 123)

Pakistani controls (N = 96)

North American stutterers (N = 316)

North American controls (N = 276)

GNPTAB

  Exon9

c.961A > G

p.Ser321Gly

1

0

0

0

  Exon11

c.1363 G > T

p.Ala455Ser

0

0

2

0

  Exon13

c.1875 C > G

p.Phe624Leu

1

0

0

0

  Exon19

c.3598 G > A

p.Glu1200Lys

7

1

2

0

GNPTG

  Exon1

c.11_19dup

p.Leu 5_Arg7dup

0

0

1

0

  Exon2

c.74 C > A

p.Ala25Glu

0

0

2

0

  Exon9

c.688 C > G

p.Leu230Val

0

0

1

0

NAGPA

  Exon2

c.252 C > G

p.His84Gln

0

0

2

0

  Exon6

c.982 C > T

p.Arg328Cys

0

0

5

0

  Exon10

c.1538_1553del

p.Phe513SerfsX113

0

0

1

0