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Mutation Report for: D70G/S425P_human-BCHE

Name Class
D70G/S425P_human-BCHEGene_locushuman-BCHE
Torpedo_number72,427
427
72
AA_ChangeD70G/S425P
Mode_of_mutationSite directed mutagenesis
ModificationSuccinylcholine hydrolysis
SummarySuccinylcholine hydrolysis/Dibucaine inhibition;S425P exaggerates D70G effects of dibucaine and succinylcholine resistance;Gnatt_1990_Cancer.Res_50_1983;Neville_1990_J.Neurosci.Res_27_452;Neville_1992_EMBO.J_11_1641;Gnatt_1990_Cancer.Res_50_1983;Schwarz_1995_Pharmacol.Th_67_283
PaperGnatt_1990_Cancer.Res_50_1983
Neville_1990_J.Neurosci.Res_27_452
Neville_1992_EMBO.J_11_1641
Schwarz_1995_Pharmacol.Ther_67_283
Commentp.D70G/S425P Asp70Gly/Ser425Pro (p.D98G/S453P Asp98Gly/Ser453Pro in primary sequence with 28 amino-acids signal peptide) The S425P 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

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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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