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Mutation Report for: R135Q_human-LCAT

R135Q_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.R135Q Arg135Gln c.486G>A R159Q Arg159Gln with numbering including signal peptide.rs768017317
    Kinetic parameters|none


    References:
      Title: Two novel molecular defects in the LCAT gene are associated with fish eye disease
      Kuivenhoven JA, Stalenhoef AF, Hill JS, Demacker PN, Errami A, Kastelein JJ, Pritchard PH
      Ref: Arterioscler Thromb Vasc Biol, 16:294, 1996 : PubMed

              




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