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Mutation Report for: L356F_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    CommentpL356F Leu356Phe c.1068A>C (pL334F Leu334Phe in the mature protein without the 22 amino-acids of signal peptide) rs3829462 also Compound heterozygote with R208H or T405M
    References
      Title: Severe hypertriglyceridemia in Japan: Differences in causes and therapeutic responses
      Murase T, Okubo M, Ebara T, Mori Y
      Ref: J Clin Lipidol, 11:1383, 2017 : PubMed

              

      Title: Hepatic lipase deficiency in a Middle-Eastern-Arabic male.
      Al Riyami N, Al-Ali AM, Al-Sarraf AJ, Hill J, Sachs-Barrable K, Hegele R, Wasan KM, Frohlich J
      Ref: BMJ Case Rep, :, 2010 : PubMed

              

      Title: Pancreatitis caused by hypertriglyceridemia in a patient compound heterozygous for Leu334Phe and -514C-->T in the hepatic lipase gene
      Ebara T, Murase T, Okubo M
      Ref: Pancreas, 38:233, 2009 : PubMed

              

      Title: Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia
      Plengpanich W, Siriwong S, Khovidhunkit W
      Ref: Metabolism, 58:1178, 2009 : 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: Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors
      Morabia A, Cayanis E, Costanza MC, Ross BM, Flaherty MS, Alvin GB, Das K, Gilliam TC
      Ref: Hum Mol Genet, 12:2733, 2003 : 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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