PAH T380M - GET-Evidence

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

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Curation:
Currentness:

PAH T380M

(PAH Thr380Met)


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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

  • A @ chr12:103237484: 0.0% (5/10758) in EVS
  • Frequency shown in summary reports: 0.0% (5/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.991 (probably damaging)
    Web search results (36 hits -- see all)
  • 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
  • The mutation spectrum of hyperphenylalaninaemia in the ...
    R408W, the predominant Irish PAH mutation associated with haplotype 1.8, reached ... Exon sequences of the PAH locus were scanned for the presence of mutation by ...
    www.nature.com/ejhg/journal/v10/n9/full/5200841a.html
  • FINDbase
    PAH. Phenylketonuria. c.529G>C. PAH. Phenylketonuria. c.58C>T. PAH ... T380M. PAH. Phenylketonuria. p.T81P. PAH. Phenylketonuria. p.T81_R86>VfsX6. PAH. Phenylketonuria ...
    findbase.org/display-file.php?...&consortium=
  • Molecular analysis of phenylketonuria (PKU) in newborns from ...
    Molecular analysis of phenylketonuria (PKU) in newborns from Texas. ... and exon-intron boundaries of the PAH gene in genomic DNA isolated from dry ...
    www.ncbi.nlm.nih.gov/pubmed/11385716
  • Genotype/Phenotype
    PAHdb Advanced Search ... p.T380M. p.R408W. p.T81_R86>VfsX6. p.R241C. p.T92I. IVS12+1G>A. p.V230I. p.L348V. p.V245A. p.L194P. p.V388M. p.V388M. p.W120X. p.E390G. p.W187X ...
    pahdb.mcgill.ca/PahdbSearch.php?.../Phenotype
  • doi:10.1016/S1096-7192(02)00229-9
    These observations suggest that residual PAH activity (in vitro) is a ... PAH is the rate-controlling enzyme of. phenylalanine homeostasis. Phenylalanine, an ...
    www.bh4.org/pdf/spaapen_gonzales.pdf
  • The mutation spectrum of hyperphenylalaninaemia in the ...
    screened for mutations at the human phenylalanine hydroxylase (PAH) locus. ... R408W, the predominant Irish PAH mutation associated with haplotype ...
    web.unife.it/progetti/genetica/Giorgio/PDFfiles/ejhg2002.pdf
  • 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 ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Mendelian Inheritance in Man Document Reader
    The PAH Mutation Analysis Consortium Database records both disease-producing and ... 2 have been accomplished: a cDNA clone expressing human PAH and a PAH-deficient ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+261600
  • Phenylalanine hydroxylase (PAH) mutation map
    Eco RI. VNTR. Phenylalanine. hydroxylase (PAH) mutation map. 5'UTR. 3'UTR ... T380M[H4] T378S. Y377>Tfs. Y377C[H4] N376I fs X24. A373T. A373>Hfs [H12] T372S. K371R. L367P ...
    www.pahdb.mcgill.ca/Information/MutationMap/mutationmap.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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