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Mutation Report for: T321M_human-LCAT

T321M_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.T321M Thr321Met c.1034C>T, (p.T345M Thr345Met with numbering including signal peptide)
    Kinetic parameters|none


    References:
      Title: Familial LCAT deficiency: from renal replacement to enzyme replacement
      Stoekenbroek RM, van den Bergh Weerman MA, Hovingh GK, Potter van Loon BJ, Siegert CE, Holleboom AG
      Ref: Neth J Med, 71:29, 2013 : PubMed

              

      Title: Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease
      Funke H, von Eckardstein A, Pritchard PH, Hornby AE, Wiebusch H, Motti C, Hayden MR, Dachet C, Jacotot B and Assmann G <6 more author(s)>
      Ref: J Clinical Investigation, 91:677, 1993 : PubMed

              




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