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Mutation Report for: T405M_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commentp.T405M Tht405Met c.1271C>T (p.T383M Tht383Met in the mature protein without the 22 amino-acids of signal peptide) rs113298164 also Compound heterozygote with L356F
    References
      Title: The Contribution of GWAS Loci in Familial Dyslipidemias
      Ripatti P, Ramo JT, Soderlund S, Surakka I, Matikainen N, Pirinen M, Pajukanta P, Sarin AP, Service SK and Ripatti S <7 more author(s)>
      Ref: PLoS Genet, 12:e1006078, 2016 : PubMed

              

      Title: Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency
      Ruel IL, Lamarche B, Mauger JF, Badellino KO, Cohn JS, Marcil M, Couture P
      Ref: Arterioscler Thromb Vasc Biol, 25:2600, 2005 : PubMed

              

      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: The role of hepatic lipase in lipoprotein metabolism
      Connelly PW
      Ref: Clinica Chimica Acta, 286:243, 1999 : PubMed

              

      Title: Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency
      Hegele RA, Little JA, Connelly PW
      Ref: Biochemical & Biophysical Research Communications, 179:78, 1991 : PubMed

              


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