Kinetic parameters

Tree Display

AceDB Schema

XML Display


Mutation Report for: F40EfsX27_human-SPG21

Gene_Locushuman-SPG21 Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
    Commentp.F40EfsX27 p.Phe40GlufsTer27 homozygous single base deletion c.118delC. first Italian family with SPG21 Cognitive decline prevailing on spastic paraparesis component
      Title: Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21
      Scarlato M, Citterio A, Barbieri A, Godi C, Panzeri E, Bassi MT
      Ref: Journal of Neurology, 264:2021, 2017 : 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

    Acknowledgements and disclaimer