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Mutation Report for: S289F_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
    CommentpS289F Ser289Phe c.923C>T (pS267F Ser267Phe in the mature protein without the 22 amino-acids of signal peptide) rs121912502
      Title: The role of hepatic lipase in lipoprotein metabolism
      Connelly PW
      Ref: Clinica Chimica Acta, 286:243, 1999 : PubMed


      Title: Human hepatic lipase mutations and polymorphisms
      Hegele RA, Tu L, Connelly PW
      Ref: Hum Mutat, 1:320, 1992 : PubMed


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