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Mutation Report for: L40X_human-CES1

L40X_human-CES1
Gene_Locus|human-CES1
Mode of mutation|Natural mutant
Amino Acid change|L40stop
Torpedo number|22
Summary|
Comment|p.L40X Leu40Ter Nucleotide change T227G rs151291296 (p.L68X Leu68Ter in the primary sequence with the 28 amino-acids signal peptide)
Kinetic parameters|none


References:
    Title: Pharmacogenetic study of CES1 gene and enalapril efficacy
    Hussain M, Basheer S, Khalil A, Haider QUA, Saeed H, Faizan M
    Ref: J Appl Genet, :, 2024 : PubMed

            

    Title: A Comprehensive Functional Assessment of Carboxylesterase 1 Nonsynonymous Polymorphisms
    Wang X, Rida N, Shi J, Wu AH, Bleske BE, Zhu HJ
    Ref: Drug Metabolism & Disposition: The Biological Fate of Chemicals, 45:1149, 2017 : PubMed

            




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