rs1042503
This is a synonymous variant in the PAH gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samplesAssociationN=5,414Talkowski ME et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Study of phenylalanine hydroxylase (PAH) variants in four independent samples (n=5,414; 260 trios, 230 cases, 474 controls from two US Caucasian cohorts; 659 Bulgarian trios; 464 African-American families with 401 controls) investigating associations with schizophrenia. Key finding: rs1522305 common G allele showed replicated association with schizophrenia across samples (US case-control p=0.006, OR=1.64; Bulgarian p=0.015; combined p=0.003). L321L synonym was associated with increased risk in African-Americans (p=0.047, OR=1.46).
About PAH
This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
View all PAH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…