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Mutation Report for: R208H_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
    CommentpR208H Arg208His c.680G>A (pR186H Arg186His in the mature protein without the 22 amino-acids of signal peptide) rs200684324 Compound heterozygote with L356F
      Title: Lipoprotein metabolism in subjects with hepatic lipase deficiency
      Tilly-Kiesi M, Schaefer EJ, Knudsen P, Welty FK, Dolnikowski GG, Taskinen MR, Lichtenstein AH
      Ref: Metabolism, 53:520, 2004 : PubMed


      Title: Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene
      Knudsen P, Antikainen M, Uusi-Oukari M, Ehnholm S, Lahdenpera S, Bensadoun A, Funke H, Wiebusch H, Assmann G and Ehnholm C <1 more author(s)>
      Ref: Atherosclerosis, 128:165, 1997 : PubMed


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