Mutation

Kinetic parameters

Tree Display

AceDB Schema

XML Display

Feedback

Mutation Report for: I163X_human-SPG21

Gene_Locushuman-SPG21 Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commentc.487delA; p.I163X One patient from a family which originated from Tyrol homozygous mutation in exon 6 of the ACP33 gene, leading to a premature stop codon
    References
      Title: Mast Syndrome Outside the Amish Community: SPG21 in Europe
      Amprosi M, Indelicato E, Nachbauer W, Hussl A, Stendel C, Eigentler A, Gallenmuller C, Boesch S, Klopstock T
      Ref: Front.Neurol, 12:799953, 2022 : 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