PAH A47V - GET-Evidence

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

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Curation:
Currentness:

PAH A47V

(PAH Ala47Val)


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: 0.006 (benign)
    Web search results (32 hits -- see all)
  • AJHG - Haplotypes and Linkage Disequilibrium at the ...
    ... phenylalanine hydroxylase (PAH) is an autosomal recessive disorder caused by >400 mutations in the PAH gene. ... A47V, T63P/H64N, I65T, and R68S) forms of the N-terminal domain ...
    www.cell.com/AJHG/abstract/S0002-9297(07)63540-X
  • Missense mutations in the N-terminal domain of human ...
    ... phenylalanine hydroxylase (PAH) is an autosomal recessive disorder caused by >400 mutations in the PAH gene. ... A47V, T63P/H64N, I65T, and R68S) forms of the N-terminal domain ...
    www.ncbi.nlm.nih.gov/pubmed/11326337
  • Missense Mutations in the N-Terminal Domain of Human ...
    To examine whether N-terminal PAH mutations affect the. ability of PAH to bind phenylalanine at the regulatory domain, wild-type and five mutant (G46S, A47V, T63P ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • WikiGenes - PAH - phenylalanine hydroxylase
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/5053.html
  • Human Phenylalanine Hydroxylase Mutations and ...
    Mutations. Missense ( n. 44. F39L, L41F, K42I, A47V, L48S, I65T, ... PAH. genotypes derived from 73 different mutant alleles. Whereas the majority of PAH ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • IVE-Human
    PAHdb Advanced Search ... p.A47V. 3 [p.T63P;p.H64N] 3. p.K274E. 3. p.E76G. 3. p.R243X. 2. p.F299C. 2. p.G272X. 2. p.S231P. 2. p.A403V. 2. p.R68G. 2. p.F39del. 2. p.S87R. 2. p.T124I. 2. p.I174T. 2. p. ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • FINDbase
    Phenylketonuria. c.692C>T. PAH. Phenylketonuria. c.696A>G. PAH. Phenylketonuria ... p.A47V. PAH. Phenylketonuria. p.D129G. PAH. Phenylketonuria. p.D143G. PAH. Phenylketonuria. p. ...
    findbase.org/display-file.php?...&consortium=
  • Predicted Effects of Missense Mutations on Native-State ...
    ... is a genetic disease caused by mutations in human phenylalanine hydroxylase (PAH) ... PKU missense mutations compiled at the PAH locus knowledgebase (PAHdb) were analyzed, and ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2265664/?tool=pmcentrez
  • 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
  • Escherichia coli
    To identify genes involved in the immunobiology of these cells, we used the ... reaction (DDRT-PCR) to investigate differential gene regulation in haemocytes ...
    www.bionewsonline.com/8/2/e_coli_bact_b.htm

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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