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Mutation Report for: D70G/Y114H/S425P_human-BCHE

Name Class
D70G/Y114H/S425P_human-BCHEGene_locushuman-BCHE
Torpedo_number72,116,427
427
116
72
AA_ChangeD70G/Y114H/S425P
Mode_of_mutationSite directed mutagenesis
ModificationSuccinylcholine hydrolysis
Dibucaine inhibition
SummarySuccinylcholine hydrolysis Dibucaine inhibition;mutations at 561 and 114 restore binding of inhibitors on 70 mutant;Neville_1992_EMBO.J_11_1641;Schwarz_1995_Pharmacol.Ther_67_283
PaperNeville_1992_EMBO.J_11_1641
Schwarz_1995_Pharmacol.Ther_67_283
Commentp.D70G/Y114H/S425P Asp70Gly/Tyr114His/Ser453Pro (p.D98G/Y142H/S453P Asp70Gly/Tyr114His/Ser425Pro in primary sequence with 28 amino-acids signal peptide) The Y114H(Y142H) and S425P(S453P) 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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