PAH L311P - GET-Evidence

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

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Curation:
Currentness:

PAH L311P

(PAH Leu311Pro)


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: 1.0 (probably damaging)
    Web search results (37 hits -- see all)
  • Phenylketonuria in the Greek population. Haplotype analysis ...
    The majority (94%) of the 17 mutant PAH alleles are on haplotypes 1, 2 and 4, with ... of the PAH cDNA, resulting in the conversion of codon 311 from leucine to proline (L311P) ...
    www.ncbi.nlm.nih.gov/pubmed/2615649
  • PubMed: 2615649
    The majority (94%) of the 17 mutant PAH alleles are on haplotypes 1, 2 and 4, with ... of the PAH cDNA, resulting in the conversion of codon 311 from leucine to proline (L311P) ...
    www.genome.jp/dbget-bin/www_bget?pubmed+2615649
  • IVE-Human
    PAHdb Advanced Search ... p.L255V. 4. p.A259T. 4. p.R252Q. 4. p.R157N. 4. p.K42I. 4. p.R270S. 4. p.L311P. 3. p.L255S. 3. p.R252G. 3. p.P244L. 3. p.D143G. 3. p.E390G. 3. p.A47V. 3 ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • A molecular survey of phenylketonuria in Lithuania: spectrum ...
    We report the spectrum of the PAH gene mutations in individuals ... Twenty-one different PAH gene mutations were. identified in Lithuania, resulting in an ...
    images.katalogas.lt/maleidykla/bio23/B-60.pdf
  • FINDbase
    Phenylketonuria. c.692C>T. PAH. Phenylketonuria. c.696A>G. PAH. Phenylketonuria ... p.L311P. PAH. Phenylketonuria. p.L333F. PAH. Phenylketonuria. p.L347F. 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
  • Phenylketonurias :: enzymology
    BioInfoBank Library :: Phenylketonurias :: enzymology :: [In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of ...
    lib.bioinfo.pl/meid:96561
  • doi:10.1086/521879
    missense mutations result in misfolding of PAH, increased protein turnover, and a loss of ... the remaining 238 PKU missense mutations compiled at the PAH locus knowledgebase ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • 01_Rel_2002
    tations in the PAH gene are compiled by the PAH Mutation Analysis Consortium ... (IVS10nt-11 and L311P). PAH subunit interaction is affected in the ...
    www.clinped.unimi.it/atti/Relazioni_03.pdf
  • mutation analysis
    Fig. 1. Mutations detected in exon 7 of the PAH gene using DGGE analysis. ... R158Q in exon 5 (MP3, E5, lane 1), L311P in exon 9 (MP3, E9, lane 2), I65T in ...
    www.bio-rad.com/LifeScience/pdf/Bulletin_2377.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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