Mutation

Kinetic parameters

Tree Display

AceDB Schema

XML Display

Feedback

Mutation Report for: D113FX15_human-ABHD12

D113FX15_human-ABHD12
Gene_Locus|human-ABHD12
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|frameshift mutation Homozygous c337_338delGAinsTTT in exon3 repalces Asp 113 by Phe and downstream prmature stop codon
    Kinetic parameters|none


    References:
      Title: Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism
      Fiskerstrand T, H'Mida-Ben Brahim D, Johansson S, M'Zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C and Knappskog PM <9 more author(s)>
      Ref: American Journal of Human Genetics, 87:410, 2010 : PubMed

              




    Send your questions or comments to :
    Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
    For technical information about these pages see:
    ESTHER Home Page and ACEDB Home Page
    AcePerl Lincoln Stein Home Page
    webmaster

    Acknowledgements and disclaimer