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Mutation Report for: P245A_human-PNLIP

P245A_human-PNLIP
Gene_Locus|human-PNLIP
Mode of mutation|Natural mutant
Amino Acid change|P245A
Torpedo number|
Summary|
Comment|Heterozygote missense mutation, Pro245Ala p.P245A c.733C>G. Protease-sensitive protein. Variants associated with early onset chronic pancreatitis
Kinetic parameters|none


References:
    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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