PAH R176Q - GET-Evidence

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

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Curation:
Currentness:

PAH R176Q

(PAH Arg176Gln)


Short summary

Hyperphenylalaninemia

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

 

Allele frequency

  • None available.

Publications
 

Desviat LR, Pérez B, Gámez A, Sánchez A, García MJ, Martínez-Pardo M, Marchante C, Bóveda D, Baldellou A, Arena J, Sanjurjo P, Fernández A, Cabello ML, Ugarte M. Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. Eur J Hum Genet. 1999 Apr;7(3):386-92. PubMed PMID: 10234516.

This variant is implicated in autosomal recessive mild hyperphenylalaninemia in 8.6% of 93 patients as a compound heterozygote in Spain.

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.176 (benign)
    Web search results (6 hits -- see all)
  • Genotype/Phenotype
    PAHdb Advanced Search ... R176Q. R169H. P281L. R176Q. R158Q. R261Q. C284R. R297C. Y356X. R408W. EX3del4765. Y343D. Y343D [p.E56E;IVS2+1G>A] p.E280K. Go to Top. Copyright 2007 Debelle ...
    pahdb.mcgill.ca/PahdbSearch.php?.../Phenotype
  • Type II- 97%
    ... mildly unstable, dbSNP:rs34948328) PAH P00439 R261Q 268 VAR_000965 ... CCNYL2 Q5T2Q4 R176Q 183 VAR_037298 PDGFR (0.556) Polymorphism (dbSNP:rs2489720) SERPINF2 P08697 R434K 439 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt
  • Type II- 95%
    ... CAMKL (0.599) XCNM 12522554 PAH P00439 L212P 206 VAR_000929 PDGFR (0. ... PIKK (0.508) Montechiaro 17145605 CCNYL2 Q5T2Q4 R176Q 183 VAR_037298 PDGFR (0.556) Polymorphism (dbSNP: ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Steroidogenic adrenocortical cell lines produced by ...
    Steroidogenic adrenocortical cell lines produced by genetically targeted tumorigenesis in ... human fibroblast growth factor 23 (R176Q) delineate a putat. Endocrinology Oct 18, ...
    www.knockoutscience.com/showabstract.php?pmid=8152434

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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