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Mutation Report for: L260VfsX105_human-CTSA

L260VfsX105_human-CTSA
Gene_Locus|human-CTSA
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c777ins5 GTGAG insertion of 5 bases after codon 259 causes framshift 105 residues downstream found in a compound heterozygote
    Kinetic parameters|none


    References:
      Title: Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene
      Richard C, Tranchemontagne J, Elsliger MA, Mitchell GA, Potier M, Pshezhetsky AV
      Ref: Hum Mutat, 11:461, 1998 : PubMed

              




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