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Mutation Report for: G343VfsX14_human-LIPA

G343VfsX14_human-LIPA
Gene_Locus|human-LIPA
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.G343VfsX14 Gly343ValfsTer14. Proband was a heterozygous carrier of a G-deletion in exon 10 which affects one of five Gs at cDNA positions 1064-1068 result in premature termination of protein translation at residues 336 (G322VfsX14 Gly322ValfsTer14 in mature protein)(Ex10_1del_336X)
    Kinetic parameters|none


    References:
      Title: Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease
      Lohse P, Maas S, Elleder M, Kirk JM, Besley GT, Seidel D
      Ref: J Lipid Res, 41:23, 2000 : PubMed

              




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