PAH P244L - GET-Evidence

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

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Curation:
Currentness:

PAH P244L

(PAH Pro244Leu)


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 (48 hits -- see all)
  • Mechanisms Underlying Responsiveness to Tetrahydrobiopterin ...
    A subtype of phenylalanine hydroxylase (PAH) deficiency that responds to cofactor ... wt-PAH and the mutants p.R68S, p.I65T, p.P244L, and. p.R261Q did not show any aggregation ...
    www.biopku.org/pdf/pey.pdf
  • Kinetic and stability analysis of PKU mutations identi Wed in BH
    script coding for wild-type PAH protein. Detailed analysis of the steady-state kinetic ... mutation (P244L) is close to one of the cofactor binding ...
    www.biopku.org/pdf/perezMGM.pdf
  • Mechanisms underlying responsiveness to tetrahydrobiopterin ...
    A subtype of phenylalanine hydroxylase (PAH) deficiency that responds to cofactor ... In addition, for wild-type PAH and all mild PKU mutants analyzed in ...
    www.ncbi.nlm.nih.gov/pubmed/15459954
  • IVE-Human
    PAHdb Advanced Search ... p.P244L. 3. p.D143G. 3. p.E390G. 3. 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. ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • 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
  • FINDbase
    Phenylketonuria. c.692C>T. PAH. Phenylketonuria. c.696A>G. PAH. Phenylketonuria ... p.P244L. PAH. Phenylketonuria. p.P275S. PAH. Phenylketonuria. p.P281L. PAH. Phenylketonuria. p. ...
    findbase.org/display-file.php?...&consortium=
  • Phenylalanine hydroxylase (PAH) mutation map
    Eco RI. VNTR. Phenylalanine. hydroxylase (PAH) mutation map. 5'UTR. 3'UTR ... P244L[H12] R243X[H2,4,5] R243Q[H4,7,9] R243L. L242F. R241L. R241H[H5] R241C[H34] R241>Pfs ...
    www.pahdb.mcgill.ca/Information/MutationMap/mutationmap.pdf
  • Tetrahydrobiopterin responsiveness: results of the BH
    lishing the association with speciļ¬c PAH mutations. In this work, we ... P244L. and V388M, but not R261Q) which determines the mo- lecular composition of the PAH ...
    www.bh4.org/pdf/desviat.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

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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