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Mutation Report for: I317N_human-PLA2G7

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|p.I317N Ile317Asn c.950T>A exon 10 compound heterozygote with the common V279F mutation. This mutation would create a new N-linked glycosylation site (N-X-S) on the Lp-PLA2 protein
    Kinetic parameters|none

      Title: Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients
      Ishihara M, Iwasaki T, Nagano M, Ishii J, Takano M, Kujiraoka T, Tsuji M, Hattori H, Emi M
      Ref: J Hum Genet, 49:302, 2004 : PubMed


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