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Mutation Report for: N131D_human-LCAT

N131D_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.N131D Asn131Asp c.463A>G, (N155D Asn155Asp with numbering including signal peptide) Exon 4 Phenotype (Fish Eye Disease)
    Kinetic parameters|none


    References:
      Title: A unique genetic and biochemical presentation of fish-eye disease
      Kuivenhoven JA, van Voorst tot Voorst EJ, Wiebusch H, Marcovina SM, Funke H, Assmann G, Pritchard PH, Kastelein JJ
      Ref: J Clinical Investigation, 96:2783, 1995 : PubMed

              




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