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Mutation Report for: I163X_human-SPG21

Gene_Locushuman-SPG21 Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
    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
      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


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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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