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Mutation Report for: V442G_human-LPL

V442G_human-LPL
Gene_Locus|human-LPL
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.V442G Val442Gly c.1325T>G. (p.V415G Val415Gly in the mature protein) Found as heterozygote in a patient also mhomozygote mutant for a nonsense variant of APOA5 gene Q295X
    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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