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Mutation Report for: Prom-216A_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
    CommentThe G-->A(-216) allele is associated with lower HL
      Title: Hepatic lipase promoter activity is reduced by the C-480T and G-216A substitutions present in the common LIPC gene variant, and is increased by Upstream Stimulatory Factor
      Botma GJ, Verhoeven AJ, Jansen H
      Ref: Atherosclerosis, 154:625, 2001 : PubMed


      Title: Polymorphisms in the lipoprotein lipase and hepatic lipase genes and plasma lipid values in the Czech population
      Hubacek JA, Waterworth DM, Pitha J, Humphries SE, Talmud PJ, Poledne R
      Ref: Physiol Res, 50:345, 2001 : PubMed


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