PAH I306V - GET-Evidence

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

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Curation:
Currentness:

PAH I306V

(PAH Ile306Val)


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: 0.049 (benign)
    Web search results (30 hits -- see all)
  • 13 1 2 3 4 5 6 7 8 9 10 11 12 Introns Exons
    I306V. A395P. P390G. E390G. V388M. A373T. L367fsinsC. Y417H. D415N. Y414C. R413P. R408Q. R408W. P407S. A403V. Mutations with residual PAH activity (potentially BH4-responsive) ...
    www.biopku.org/biopkudocs/biopku_pah_map.pdf
  • 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
  • Genotype/Phenotype
    PAHdb Advanced Search ... p.I306V. p.I38fsX19. Compound. p.I406T. p.I65T. p.I65N. p.L48S. p.I65S. p.A300S. p.I65T. p.S87R. p.I95_K96delinsK. p.Y356X. p.IVS12+4A>G. p.R241fsX5. p.IVS12+6T>A. p. ...
    pahdb.mcgill.ca/PahdbSearch.php?.../Phenotype
  • BIOPKU Search
    p.I306V. Nucleotide aberration 1. c.916A>G. Location in gene 1. Exon 9. PAH domain 1 ... with phenylalanine hydroxylase (PAH) deficiency " Human Mutat: ...
    www.biopku.org/dbsearches/BIOPKU_Details.asp?ID=495
  • FINDbase
    PAH. Phenylketonuria. c.529G>C. PAH. Phenylketonuria. c.58C>T. PAH ... p.I306V. PAH. Phenylketonuria. p.I38fsX19. PAH. Phenylketonuria. p.I65T. PAH. Phenylketonuria. p. ...
    findbase.org/display-file.php?...&consortium=
  • 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
  • Balkan Journal of Medical Genetics
    The remaining ones (R158Q, I306V, IVS12+1G>A, Q20X, R111X, V177L, ... The characterization of PAH mutations created the base for molecular diagnostics and genetic counseling of ...
    www.bjmg.edu.mk/record.asp?recordid=64
  • Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness ...
    With regard to the predicted relative PAH activity of recombinantly expressed mutant. alleles, there was a ... The similar was observed for much less frequent p.I306V ...
    www.bh4.org/pdf/karacic_2009.pdf
  • Long-term treatment with tetrahydrobiopterin increases ...
    Hyperphenylalaninemia caused by phenylalanine hydroxylase (PAH) de ... for a putative null and a variant PAH mutation in four patients and homozy ...
    www.bh4.org/pdf/hennermann_MGM05.pdf
  • PAH talk, Euro Winter tour '07
    PAH Deficient PKU. Autosomal recessive defect of liver. phenylalanine metabolism. Identified ... PAH assessment in 125 PKU patients. 2 variant alleles identified in ...
    interactivebioscience.cz/.../Analyzing the PAH gene....pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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