PAH N167S - GET-Evidence

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

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Curation:
Currentness:

PAH N167S

(PAH Asn167Ser)


Short summary

This variant was implicated in Phenylketonuria after it was seen in a heterozygous fashion in one individual.

Variant evidence
Computational 1

This gene is associated with the disease

See unpublished research (below).

Functional -
Case/Control

Evidence is not significant.

See unpublished research (below).

Familial

No familial data, only a single individual reported.

See unpublished research (below).

 
Clinical importance
Severity 4

PKU causes severe disability, permanent damage

See unpublished research (below).

Treatability 4

Continuous treatment essentially eliminates the effect of the disease

See unpublished research (below).

Penetrance -
 

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Total cases/controls case+ case– control+ control– p-value odds ratio
Phenylalanine Hydroxylase Deficiency
1 39 0 51 0.4396

 

Allele frequency

  • C @ chr12:103260383: 0.5% (59/10758) in EVS
  • C @ chr12:101784512: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.5% (59/10758)

Publications
 

Yang Y, Drummond-Borg M, Garcia-Heras J. Molecular analysis of phenylketonuria (PKU) in newborns from Texas. Hum Mutat. 2001 Jun;17(6):523. PubMed PMID: 11385716.

This variant was found heterozygously in a screen of 40 individuals with phenylketonuria. It was not seen in 51 controls (102 chromosomes). It is in a conserved residue in the catalytic domain.

Cases/controls case+ case– control+ control– p-value odds ratio
Phenylalanine Hydroxylase Deficiency
1 39 0 51 0.4396

 

Genomes
 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr12:101784513

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr12:101784513

 

NA18517

 

Other external references
 

    PolyPhen-2
  • Score: 0.239 (possibly damaging)
    Web search results (5 hits -- see all)
  • Genotype/Phenotype
    PAHdb Advanced Search ... p.N167S. p.N207D. p.Y325X. p.N61D. p.R261Q. p.N61K. IVS1+5G>T. p.P122Q. p.F39L. p.P147S. p.A403V. p.P225A. p.R408W. p.P244L. p.I65T. p.P275L. p.Y414C. p.P281L. p.P281L ...
    pahdb.mcgill.ca/PahdbSearch.php?.../Phenotype
  • Molecular analysis of phenylketonuria (PKU) in newborns from ...
    Molecular analysis of phenylketonuria (PKU) in newborns from Texas. ... Two novel missense mutations were identified in exon 5 (H170D and N167S) ...
    www.ncbi.nlm.nih.gov/pubmed/11385716
  • PubMed: 11385716
    ... of the 13 exons and exon-intron boundaries of the PAH gene in genomic DNA isolated from dry blood spots. ... novel missense mutations were identified in exon 5 (H170D and N167S) ...
    www.genome.jp/dbget-bin/www_bget?pubmed+11385716
  • Drummond-Borg, M (M)
    Drummond-Borg, M (M) :: Molecular basis of abnormal red-green color vision: a family with three types of ... exon-intron boundaries of the PAH gene in genomic DNA isolated from ...
    lib.bioinfo.pl/auid:3278991
  • Prenatal diagnosis of a trisomy 17p derived from a de novo ...
    BioInfoBank Library :: Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker. Mild phenotypic effects of a de novo deletion Xpter ...
    lib.bioinfo.pl/pmid:9842996

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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