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Mutation Report for: I265R_human-PNLIP

I265R_human-PNLIP
Gene_Locus|human-PNLIP
Mode of mutation|Natural mutant
Amino Acid change|I265R
Torpedo number|
Summary|
Comment|Heterozygote missense mutation, Ile265Arg p.I265R c.794T>G rs377358755 Protease-sensitive protein. Variants associated with early onset chronic pancreatitis. The only variant that was detected in both cases and controls
Kinetic parameters|none


References:
    Title: Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis
    Masson E, Berthet S, Le Gac G, Le Rhun M, Ka C, Autret S, Gourlaouen I
    Ref: Pancreatology, :, 2023 : PubMed

            

    Title: Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis
    Lasher D, Szabo A, Masamune A, Chen JM, Xiao X, Whitcomb DC, Barmada MM, Ewers M, Ruffert C and Sahin-Toth M <19 more author(s)>
    Ref: Am J Gastroenterol, 114:974, 2019 : PubMed

            




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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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