PAH

Gene name: phenylalanine hydroxylase
OMIM ID: 612349
Chromosome location: 12q23.2

Mutations

Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.1055delG
A.A. Change	G352fsdelG
Exon/Intron	exon 10
Mutation Type	deletion
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.1066-11G>A
A.A. Change	Splicing
Exon/Intron	intron 10
Mutation Type	substitution
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.1223G>A
A.A. Change	p.Arg408Gln
Exon/Intron	exon 12
Mutation Type	substitution
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.253A>T
A.A. Change	p.Lys85Stop
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.359G>A
A.A. Change	p.Trp120XStop
Exon/Intron	exon 4
Mutation Type	substitution
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.434A>T
A.A. Change	p.Asp145Val
Exon/Intron	exon 4
Mutation Type	substitution
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.434A>T
A.A. Change	p.Asp145Val
Exon/Intron	exon 4
Mutation Type	substitution
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.493G>A
A.A. Change	p.Ala165Thr
Exon/Intron	exon 5
Mutation Type	substitution
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.526C>T
A.A. Change	p.Arg176Stop
Exon/Intron	exon 6
Mutation Type	substitution
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.586T>A
A.A. Change	p.Ser196Thr
Exon/Intron	exon 6
Mutation Type	substitution
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.593_614del
A.A. Change	p.Tyr198CysfsX136
Exon/Intron	exon 6
Mutation Type	deletion
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.727C>T
A.A. Change	p.Arg243Stop
Exon/Intron	exon 7
Mutation Type	substitution
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
Reference transcript	NM_000277.1
DNA Change	c.773T>C
A.A. Change	p.Leu258Pro
Exon/Intron	exon 7
Mutation Type	substitution
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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Disease/Phenotype	Phenylketonuria
DNA Change	Exon deletion
A.A. Change
Exon/Intron	exon 3
Mutation Type	deletion
Reference	Dahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Clin Biochem. 2010 Jan;43(1-2):76-81.

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  Variant not named according to HGVS recommendations