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Mutation Report for: D70G/Y114H/F561Y_human-BCHE

Mode of mutation|Site directed mutagenesis
Amino Acid change|D70G/Y114H/F561Y
Torpedo number|72,116,563//563//116//72
Comment|p.D70G/Y114H/F561Y Asp70Gly/Tyr114His/Phe561Tyr (p.D98G/Y142H/F589Y Asp98Gly/Tyr142His/Phe589Tyr in primary sequence with 28 amino-acids signal peptide) The Y114H(Y142H) F561Y(F589Y) 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


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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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