Mutation

Kinetic parameters

Tree Display

AceDB Schema

XML Display

Feedback

Mutation Report for: V52fs_human-SPG21

V52fs_human-SPG21
Gene_Locus|human-SPG21
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.153delT; p.Val52fs) causes a frameshift compound. Two siblings were affected in a family originated from Upper Austria. heterozygous mutations in exon 3 with c.118C>T; p.R40X
    Kinetic parameters|none


    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