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Mutation Report for: F561Y_human-BCHE

Mode of mutation|Site directed mutagenesis
Amino Acid change|F561Y
Torpedo number|563
Comment|p.F561Y Phe561Tyr (p.F589Y Phe589Tyr in primary sequence with 28 amino-acids signal peptide) The F561Y could be considered as natural but was only found in clones of neuroblastomas and gliostomas, as such are somatic mutations not found in families as abnormal plasma cholinesterases
Kinetic parameters|none

    Title: Intramolecular relationships in cholinesterases revealed by oocyte expression of site-directed and natural variants of human BCHE
    Neville LF, Gnatt A, Loewenstein Y, Seidman S, Ehrlich G, Soreq H
    Ref: EMBO Journal, 11:1641, 1992 : PubMed


    Title: Excavations into the active-site gorge of cholinesterases.
    Soreq H, Gnatt A, Loewenstein Y, Neville LF
    Ref: Trends in Biochemical Sciences, 17:353, 1992 : PubMed


    Title: Expression of alternatively terminated unusual human butyrylcholinesterase messenger RNA transcripts, mapping to chromosome 3q26-ter, in nervous system tumors
    Gnatt A, Prody CA, Zamir R, Lieman-Hurwitz J, Zakut H, Soreq H
    Ref: Cancer Research, 50:1983, 1990 : 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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