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Mutation Report for: G248V_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commentp.G248V Gly248Val c.800G>T (p.G226V Gly226Val in the mature protein without the 22 amino-acids of signal peptide) rs774643284. Found together in a patient compound heterozygote with R214I_human-lpl E282X_human-lpl mutations
    References
      Title: Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride
      Buonuomo PS, Rabacchi C, Macchiaiolo M, Trenti C, Fasano T, Tarugi P, Bartuli A, Bertolini S, Calandra S
      Ref: J Clin Lipidol, 11:1329, 2017 : PubMed

              


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