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Mutation Report for: HYB1_human-CEL

Mode of mutation|Natural mutant
Amino Acid change|I488T/T548I
Torpedo number|
    Comment|The risk variant CEL-HYB1, a recombinant hybrid allele of CEL and its neighboring pseudogene (CELP), encodes a pathogenic variant of the pancreatic digestive enzyme carboxyl ester lipase (CEL). We previously identified combinations of two non-synonymous SNPs, c.1463T>C (p. Ile488Thr) and c.1643C>T (p. Thr548Ile), in the break point region of CEL-HYB1. Activity of enzyme not reduced but proteotoxic misfolding. No association between CEL-HYB hybrid allele and Chronic pancreatitis in asian populations
    Kinetic parameters|none

      Title: The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice
      Mao XT, Zou WB, Cao Y, Wang YC, Deng SJ, Cooper DN, Ferec C, Li ZS, Chen JM, Liao Z
      Ref: Cell Mol Gastroenterol Hepatol, :, 2022 : PubMed


      Title: Protein misfolding in combination with other risk factors in CEL-HYB1-mediated chronic pancreatitis
      Tjora E, Gravdal A, Engjom T, Cnop M, Johansson BB, Dimcevski GG, Molven A, Fjeld K
      Ref: European Journal of Gastroenterology & Hepatology, 33:839, 2021 : PubMed


      Title: Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding
      Cassidy BM, Zino S, Fjeld K, Molven A, Lowe ME, Xiao X
      Ref: Hum Mutat, 41:1967, 2020 : PubMed


      Title: Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells
      Dalva M, Lavik IK, El Jellas K, Gravdal A, Lugea A, Pandol SJ, Njolstad PR, Waldron RT, Fjeld K and Molven A <1 more author(s)>
      Ref: Cells, 9:244, 2020 : PubMed


      Title: The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis
      Oracz G, Kujko AA, Fjeld K, Wertheim-Tysarowska K, Adamus-Bialek W, Steine SJ, Koziel D, Gluszek S, Molven A, Rygiel AM
      Ref: Pancreatology, 19:531, 2019 : PubMed


      Title: No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations
      Zou WB, Boulling A, Masamune A, Issarapu P, Masson E, Wu H, Sun XT, Hu LH, Zhou DZ and Liao Z <16 more author(s)>
      Ref: Gastroenterology, 150:1558, 2016 : PubMed


      Title: A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis
      Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H, Ruffert C, Masson E and Molven A <19 more author(s)>
      Ref: Nat Genet, 47:518, 2015 : 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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