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Mutation Report for: T221M_human-PNLIP

T221M_human-PNLIP
Gene_Locus|human-PNLIP
Mode of mutation|Natural mutant
Amino Acid change|T221M
Torpedo number|
Summary|
Comment|Homozygote missense mutation, Thr221Met [c.662C>T], in two brothers from a consanguineous family. Mutation disrupts the protein's stability and impairs its normal function
Kinetic parameters|none


References:
    Title: A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding
    Szabo A, Xiao X, Haughney M, Spector A, Sahin-Toth M, Lowe ME
    Ref: Biochimica & Biophysica Acta, 1852:1372, 2015 : PubMed

            

    Title: Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency
    Behar DM, Basel-Vanagaite L, Glaser F, Kaplan M, Tzur S, Magal N, Eidlitz-Markus T, Haimi-Cohen Y, Sarig G and Zeharia A <2 more author(s)>
    Ref: J Lipid Res, 55:307, 2014 : PubMed

            




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