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Mutation Report for: G248V_human-LIPC

G248V_human-LIPC
Gene_Locus|human-LIPC
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.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
    Kinetic parameters|none


    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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