PAH M1V - GET-Evidence

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

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Curation:
Currentness:

PAH M1V

(PAH Met1Val)


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: 0.027 (benign)
    Web search results (551 hits -- see all)
  • Genetics
    For the M1V mutation (Fig. 1.17), translation cannot begin, and so no PAH enzyme is produced. ... So, a person whose two PAH alleles are M1V and R408W (or any two defective ...
    www.lehigh.edu/~jas0/G02.html
  • Mutation at the phenylalanine hydroxylase gene (PAH) and its ...
    Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population ... Only six mutations (M1V, R261Q, F299C, S349P, R408W and IVS12nt1) ...
    www.nature.com/ejhg/journal/v6/n1/abs/5200153a.html
  • Structural Studies on Phenylalanine Hydroxylase and ...
    ... PKU and genotyping of the PAH alleles, >400 mutations in the PAH gene are known to cause ... truncated form of PAH,1 a composite full-length structural model was constructed by ...
    pediatrics.aappublications.org/cgi/content/full/112/.../1557
  • PAH : Phenylalanine Hydroxylase Locus Knowledgebase web site
    PAH Phenylalanine Hydroxylase Locus Specific Database,Medical Genetics, McGill University Health Centre
    www.pahdb.mcgill.ca/?Topic=About&Section=CuratorsPage&Page=0
  • Mutagenesis of the regulatory domain of phenylalanine hydroxylase
    Besides protease treatment, the activity of PAH also can be increased highly by ... rat PAH is activated much more significantly than human PAH, despite ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC29292
  • DOI: 10.1542/peds.112.6.S1.1557 2003;112;1557-1565 Pediatrics ...
    bound at the PAH active site, the recently discovered. tetrahydrobiopterin-responsive PKU ... work done so far on PAH and. discusses some of the structural ...
    pediatrics.aappublications.org/cgi/reprint/112/6/S1/1557.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
  • 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
  • IVE-Human
    PAHdb Advanced Search ... p.M1V. 1. p.A322G. 1. p.F161S. 1. p.G247V. 1. p.L364del. 1. p.T278I. 1. p.W187C. 1. p.C265Y. 1. p.L52S. 1. p.S70P. 1. p.R241C. 1. p.L333F. 1. p.E178V. 1. p.R241H. 1. p.G171A. 1. p. ...
    www.pahdb.mcgill.ca/PahdbSearch.php?MenuSelection=IVE-Human
  • Chapter 1
    The M1V mutant in the PAH gene © 2006 Jones & Bartlett Publishers. Fig. ... The R408W mutant in the PAH gene. Chapter 1 overview. 1.5 Genes change by mutation ...
    www.cord.edu/faculty/todt/222/lecture/webppt/outline01.ppt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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