PAH D415N - GET-Evidence

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

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Curation:
Currentness:

PAH D415N

(PAH Asp415Asn)


Short summary

 

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

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.002 (benign)
    Web search results (83 hits -- see all)
  • Mutations Detected in Patients with BH4-responsive PAH Deficiency
    PAH Source: Erlandsen H and Stevens RC, Mol Genet Metab. 1999 68:103-125. D415N. Y417H ... BH4-responsive PAH Deficiency. blue = mutations with residual activity ...
    www.bh4.org/biopkudocs/PAH_domains.pdf
  • PAH : Phenylalanine Hydroxylase Locus Knowledgebase web site
    PAH Phenylalanine Hydroxylase Locus Specific Database,Medical Genetics, McGill University Health Centre
    www.pahdb.mcgill.ca/?Topic=About&Section=CuratorsPage&Page=0
  • Tetrahydrobiopterin responsiveness: results of the BH
    responsiveness in patients with mutations in the phenylalanine hydroxylase (PAH) gene is a recently ... response of speciļ¬c mutations (D415N, S87R, R176L, E390G, and A309V) ...
    www.bh4.org/pdf/desviat.pdf
  • Three prevalent mutations in a patient with phenylalanine ...
    All three mutations, R413P, Y414C, and D415N, have previously been described as being independently associated with PAH deficiency. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1051845
  • 13 1 2 3 4 5 6 7 8 9 10 11 12 Introns Exons
    D415N. Y414C. R413P. R408Q. R408W. P407S. A403V. Mutations with residual PAH activity ... Mutations associated with BH4-responsiveness (hemizygous) IVS12nt+1g> ...
    www.biopku.org/biopkudocs/biopku_pah_map.pdf
  • Mutation at the phenylalanine hydroxylase gene (PAH) and its ...
    Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population ... PKU HPA (T92I, E390G, R408Q, D415N); iii) 34 mutations causing PKU. ...
    www.nature.com/ejhg/journal/v6/n1/abs/5200153a.html
  • Tetrahydrobiopterin responsiveness: results of the BH4 ...
    ... pilot study performed with 31 Spanish PAH-deficient patients subjected to a BH4 ... in the response of specific mutations (D415N, S87R, R176L, E390G, and A309V) present in ...
    www.ncbi.nlm.nih.gov/pubmed/15464430
  • Human Phenylalanine Hydroxylase Mutations and ...
    PAH Mutation Analysis Consortium Database, on 365. patients harboring 73 different PAH ... sible for HPA map to the PAH locus, some occur at loci. controlling ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • In vivo assessment of mutations in the phenylalanine ...
    Mutations in the gene encoding phenylalanine hydroxylase (PAH) cause persistent hyperphenylalaninaemia. ... IVS-12nt1, R261Q, G46S, Y414C, A104D, and D415N) were characterized ...
    cat.inist.fr/?aModele=afficheN&cpsidt=3563221
  • IVE-Human
    PAHdb Advanced Search ... p.D415N. 2. p.I318T. 2. p.Y277D. 2. IVS10-11G>A. 2. p.P122Q. 2. p.A309V. 2. p.D59Y. 2. IVS12+1G>A. 1. p.R413P. 1. p.I94del. 1. p.M1V. 1. p.A322G. 1. p.F161S. 1. p.G247V. 1. p. ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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