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Mutation Report for: L200P_human-LIPA

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|p.(L200P) Leu200Pro c.599T>C, (p.(L179P) Leu179Pro in the mature protein) rs121965086
    Kinetic parameters|none

      Title: Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity
      Vinje T, Laerdahl JK, Bjune K, Leren TP, Strom TB
      Ref: Hum Mol Genet, 28:3043, 2019 : PubMed


      Title: Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene
      Vinje T, Wierod L, Leren TP, Strom TB
      Ref: Mol Genet Metab, 123:169, 2018 : PubMed


      Title: Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease
      Maslen CL, Babcock D, Illingworth DR
      Ref: J Inherit Metab Dis, 18:620, 1995 : PubMed


      Title: Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease
      Anderson RA, Byrum RS, Coates PM, Sando GN
      Ref: Proceedings of the National Academy of Sciences of the United States of America, 91:2718, 1994 : PubMed


      Title: Molecular genetics of cholesterol ester hydrolase deficiency. (Abstract)
      Maslen CL, Illingworth DR
      Ref: American Journal of Human Genetics, 53 (suppl.):A926, 1993 : PubMed


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