PAH S359X - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(PAH Ser359Stop)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

    Web search results (10 hits -- see all)
  • Human Phenylalanine Hydroxylase Mutations and ...
    We conclude that the majority of PAH mutations. confer a consistent phenotype and that ... sible for HPA map to the PAH locus, some occur at loci. controlling ...
  • Genotype/Phenotype
    PAHdb Advanced Search ... p.S359X. p.F55>Lfs. p.S87R. p.F39L. p.T186_W187>Tfs. p.T186_W187>Tfs. p.T200fsX6. p.G247S. p.T266E. p.R408W. p.T323del. p.Y414C. p.T380M. p.R408W. p.T81_R86>VfsX6 ...
  • FINDbase
    PAH. Phenylketonuria. c.529G>C. PAH. Phenylketonuria. c.58C>T. PAH ... p.S359X. PAH. Phenylketonuria. p.S40L. PAH. Phenylketonuria. p.S67P. PAH. Phenylketonuria. p.S87R ...
  • A European Multicenter Study of Phenylalanine Hydroxylase ...
    complete deficiency of PAH activity is designated "classic ... gene encoding PAH and that the. different forms of PAH deficiency are allelic (Ledley et ...
  • Genetic Heterogeneity in Five Italian Regions: Analysis of ...
    nylalaninehydroxylase (PAH) gene mutations and mini- haplotypes (combinations of PAH gene ... ized were genotyped by SSCP analysis of PAH exons 2, 5, 6, 7, 8, 10, ...
  • FINDbase
    PAH. Phenylketonuria. c.1066-11G>A, c.1155G>C, c.1169A>G, c.1222C>T, c.1238G>C, c.1315+1G>A, c.1316-35C>T, c. ... p.S310_A313, p.S349A, p.S349P, p.S359X, p.S40L, p.S67P, p.S87R, p. ...
  • OMIM: 612349
    RNase protection assays confirmed PAH expression in liver and kidney. ... amino acid 359 (S359X). . 0053 HYPERPHENYLALANINEMIA, NON-PKU MILD PAH, LEU98SER In a ...

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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