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Mutation Report for: Q376Tfs40_human-LCAT

Q376Tfs40_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|Q376Tfs40 Q376Tfs416 c.1198insG Insertion of a base G changes Q in T and results in frameshift and stop at 416. Q400Tfs with numbering including signal peptide single base insertion causing frameshift (in some publications I375fsX416) insertoion of an A ATACAG-ATAACAG
    Kinetic parameters|none


    References:
      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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