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Mutation Report for: S275_Q298delX_human-LIPA

S275_Q298delX_human-LIPA
Gene_Locus|human-LIPA
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.[(Q298X, S275_Q298del)] r.892C>T, position -3 of the exon 8 splice donor site. A C-->T transition leads to a nonsense codon and to a premature termination at amino acid 277. Due to this mutation, a shorter mRNA was also generated that lacked exon 8 and was deficient of the nonsense codon. The protein synthesis proceeded to the natural stop codon, but the enzyme generated had an internal deletion of 24 amino acids (275-298) and was also inactive. Q277X, S254_Q277del in the mature protein
    Kinetic parameters|none


    References:
      Title: A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred
      Ries S, Aslanidis C, Fehringer P, Carel JC, Gendrel D, Schmitz G
      Ref: J Lipid Res, 37:1761, 1996 : PubMed

              




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