Mutation

Kinetic parameters

Tree Display

AceDB Schema

XML Display

Feedback

Mutation Report for: E271X_human-BCHE

E271X_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|E271stop
Torpedo number|273
Summary|
Comment|p.E271X Glu271Ter (p.E299X Glu299Ter in primary sequence with 28 amino-acids signal peptide) Silent phenotype, Non producer
Kinetic parameters|none


References:
    Title: Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene
    Primo-Parmo SL, Bartels CF, Wiersema B, van der Spek AF, Innis JW, La Du BN
    Ref: American Journal of Human Genetics, 58:52, 1996 : PubMed

            

    Title: Heterogeneity of the Silent Phenotype of Human Butyrylcholinesterase - Identification of Eight New Mutations
    Primo-Parmo SL, Bartels CF
    Ref: In Multidisciplinary approaches to cholinesterase functions - Proceedings of Fourth International Meeting on Cholinesterases, (Shafferman, A. and Velan, B., Eds) Plenum Press, New York:61, 1992 : PubMed

            




Send your questions or comments to :
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.
For technical information about these pages see:
ESTHER Home Page and ACEDB Home Page
AcePerl Lincoln Stein Home Page
webmaster

Acknowledgements and disclaimer