PAH T380M - GET-Evidence

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

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(PAH Thr380Met)

You are viewing the latest version of this page, saved on January 5, 2010 at 10:42pm by OMIM Importing Robot.

Edited in this revision:

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



Other external references

  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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