Mutation

Kinetic parameters

Tree Display

AceDB Schema

XML Display

Feedback

Mutation Report for: R107Efs_human-ABHD12

R107Efs_human-ABHD12
Gene_Locus|human-ABHD12
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|Deletion Heterozygous Arg107Glufs*8 c.319delA Exon 3
    Kinetic parameters|none


    References:
      Title: Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration
      Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Perez-Carro R, Martin-Garrido E, Lopez-Molina MI, Blanco-Kelly F, Hoefsloot LH and Ayuso C <12 more author(s)>
      Ref: Ophthalmology, 121:1620, 2014 : 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