for example to search all human alpha/beta hydrolase found in human genome enter this search in the window below: select a, fam, nam, c from a in class Gene_locus, spec in a->Species where spec.name like "Homo sapiens", fam in a->Family, nam in a->Name, c in count(select a->Structure) sort by: fam, :nam for more examples from esther go to AQL esther for examples from esther on insecticide resistance go to AQL esther resistance for more examples from wormbase go to AQL wormbase AQL for the supplementary material of the Pucon Poster Pucon Poster select a,b from a in class Mutation where a like "*human-BCHE", b in a->Summary, c in a->Mode_of_mutation where c like "*at*"HTML outputText output   110 rows returned Mutation Summary I4del_human-BCHE Silent variant; Natural mutation one I deleted, I4 deleted (CAT deleted) GAAGATGACATCATAATT to GAAGATGACATAATT;Maekawa_1997_Clin.Chem_43_924 F446V_human-BCHE Silent variant; Natural mutation Silent phenotype;Dey_1998_Ann.Clin.Biochem_35_302 T24M_human-BCHE Silent variant; Natural mutation Silent phenotype;Maekawa_1997_Clin.Chem_43_92 P100S_human-BCHE Silent variant;Natural mutation Silent phenotype;Takagi_1997_Internat.Hepat.Com_6_288 K267R_human-BCHE Silent variant;Natural mutation Silent phenotype;Maekawa_1997_Clin.Chem_43_924 Q119X_human-BCHE Silent variant; Natural mutation Silent phenotype;Maekawa_1997_Clin.Chem_43_924 R515C_human-BCHE Silent variant; Natural mutation Silent phenotype;Takagi_1997_Internat.Hepat.Com_6_288 F418S_human-BCHE Silent variant; Natural mutation Silent phenotype;Maekawa_1995_Clin.Chim.Acta_235_41 T250P_human-BCHE Silent variant; Natural mutation Silent phenotype;Maekawa_1995_Clin.Chim.Acta_235_41 R465X_human-BCHE Silent variant; Natural mutation Silent phenotype;Maekawa_1995_Clin.Chim.Acta_235_41 Y128C_human-BCHE Silent variant; Natural mutation Silent phenotype,extremely low BChE activity;Hidaka_1997_Am.Hum.Genet_61_491 F118VfsX11_human-BCHE Natural mutation;Silent phenotype, GA insertion;Hohler_1995_J.Med.Genet_32_109 F118VfsX11_human-BCHE Silent variant;Natural mutation Silent phenotype,GGT->GGAG;Nogueira_1990_Am.J.Hum.Genet_46_934 F118VfsX11_human-BCHE Natural mutation;;Mabboux_2016_Arch.Pediatr_23_497 L330I_human-BCHE Fluoride-resistant;Natural mutation Fluoride-resistant mutant low BChE;Sudo_1997_Biochem.Biophys.Res.Commun_240_372 D70G_human-BCHE Succinylthiocholine binding;Higher Km for charged substrates;Masson_1997_Biochemistry_36_2266 D70G_human-BCHE Peripheral Anionic Site;Higher Km for substrates;Loewenstein-Lichtenstein_1996_Mol.Pharmacol_50_1423 D70G_human-BCHE Succinylcholine hydrolysis;Low hydrolysis;McGuire_1989_Proc.Natl.Acad.Sci.U.S.A_86_953;Neville_1990_J.Neurosci.Res_27_452;Neville_1992_EMBO.J_11_1641;Ehrlich_1994_Genomics_22_288;Masson_1995_5th.ChE.Meeting.Madras__230 D70G_human-BCHE Atypical variant;Low hydrolysis;McGuire_1989_Proc.Natl.Acad.Sci.U.S.A_86_953;Neville_1990_J.Neurosci.Res_27_452;Neville_1992_EMBO.J_11_1641;Ehrlich_1994_Genomics_22_288;Masson_1995_5th.ChE.Meeting.Madras__230 D70G_human-BCHE Dibucaine inhibition;Low inhibition;McGuire_1989_Proc.Natl.Acad.Sci.U.S.A_86_953;Neville_1990_J.Neurosci.Res_27_452;Neville_1992_EMBO.J_11_1641;Ehrlich_1994_Genomics_22_288; D70G_human-BCHE Aging;D70 and E197 function like check valves for water;Masson_1999_Chem.Biol.Interact_119-120_17 D70G_human-BCHE Aging;D70G increases half-life of aging by DFP 8 times;Masson_1997_Biochem.J_327_601 D70G_human-BCHE Aspirin hydrolysis;;Masson_1998_Biochim.Biophys.Acta_1387_41 G115D_human-BCHE Oxyanion hole;no activity;Loewenstein-Lichtenstein_1996_Mol.Pharmacol_50_1423 G115D_human-BCHE Silent variant;Natural mutation Silent, no activity;Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 G115D_human-BCHE Silent variant;Natural mutation Increased instability;Primo-Parmo_1997_Pharmacogenet_7_27 I6LfsX9_human-BCHE Silent variant;Natural mutation Silent phenotype;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 P37S_human-BCHE Silent variant;Natural mutation Silent phenotype;Primo-Parmo_1996_Am.J.Hum.Genet_58_52;Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61 D170E_human-BCHE Silent variant;Silent phenotype;Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 S198G_human-BCHE Natural mutation; Silent phenotype;Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 T243M_human-BCHE Fluoride-resistant;Natural mutation Fluoride-1 variant not glycosylated at N241(243);Nogueira_1992_Am.J.Hum.Genet_51_821 T315NfsX7_human-BCHE Silent variant Natural mutation;Silent Non-producer ACC->AACC;Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61, Hidaka_1992_Rinsho.Byori_40_535 G365R_human-BCHE Silent variant; Natural mutation,Silent phenotype Non-producer;Primo-Parmo_1996_Am.J.Hum.Genet_58_52,Maekawa_1995_Clin.Chim.Acta_235_41, Hidaka_1992_Rinsho.Byori_40_535 G365R_human-BCHE Silent variant; Natural mutation,Silent phenotype;Maekawa_1995_Clin.Chim.Acta_235_41 G365R_human-BCHE Silent variant; Natural mutation,Silent phenotype;Hidaka_1992_Rinsho.Byori_40_535 G390V_human-BCHE Fluoride-resistant;Fluoride-2 variant/succinylcholine resistance;Nogueira_1992_Am.J.Hum.Genet_51_821;Masson_1993_J.Biol.Chem_268_14329 G390V_human-BCHE Natural mutation;Succinylcholine resistance;Nogueira_1992_Am.J.Hum.Genet_51_821;Masson_1993_J.Biol.Chem_268_14329 W471R_human-BCHE Silent variant;Natural mutation,Silent phenotype Non producer;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 E497V/A539T_human-BCHE Natural mutation;J-variant (E1j) low level in serum;Bartels_1992_Am.J.Hum.Genet_50_1104 E497V/A539T_human-BCHE J-variant;low level in serum;Bartels_1992_Am.J.Hum.Genet_50_1104 Y500X_human-BCHE Natural mutation;Silent phenotype, Non producer;Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 Q518L_human-BCHE Natural mutation;Silent phenotype, Non producer;Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 Q518L_human-BCHE Silent phenotype;Silent phenotype, Non producer;Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 A539T_human-BCHE Natural mutation;K-variant/low activity;Bartels_1992_Am.J.Hum.Genet_50_1086;Bartels_1992_Am.J.Hum.Genet_50_1104;Ehrlich_1994_Genomics_22_288 A539T_human-BCHE Natural mutation;Silent phenotype?;Maekawa_1995_Clin.Chim.Acta_235_41 R549H_human-BCHE Natural mutation;Silent variant;Wichmann_2016_Pharmacogenet.Genomics_26_351 M434I_human-BCHE Natural mutation;;Wichmann_2016_Pharmacogenet.Genomics_26_351 V393A_human-BCHE Natural mutation;;Wichmann_2016_Pharmacogenet.Genomics_26_351 L156S_human-BCHE Natural mutation;;Wichmann_2016_Pharmacogenet.Genomics_26_351 W490R_human-BCHE Natural mutation;;Wichmann_2016_Pharmacogenet.Genomics_26_351 G439S_human-BCHE Natural mutation;;Wichmann_2016_Pharmacogenet.Genomics_26_351 I345T_human-BCHE Natural mutation;;Wichmann_2016_Pharmacogenet.Genomics_26_351 V204D_human-BCHE Expression;atypical silent phenotype;Delacour_2014_PLoS.One_9_e101552 A34V_human-BCHE Expression;atypical silent phenotype;Delacour_2014_Biochem.Pharmacol_92_476 3q26.1del_human-BCHE Expression;No expression;Lesch_2011_Mol.Psychiatry_16_491 L574SfsX2_human-BCHE Natural mutant;Probably no effect;Parmo-Folloni_2008_Chem.Biol.Interact_175_135 Alu-ins1_human-BCHE Natural mutation;Silent variant;Muratani_1991_Proc.Natl.Acad.Sci.U.S.A_88_11315 Alu-ins2_human-BCHE Natural mutation;Silent variant;Maekawa_2004_Clin.Chem_50_2410 F474L_human-BCHE Natural mutation;Silent variant;On-Kei Chan_2005_Clin.Chim.Acta_351_155 L307P_human-BCHE Natural mutation;Silent variant;Manoharan_2006_Pharmacogenet.Genomics_16_461 E432X_human-BCHE Natural mutation;;Levano_2005_Anesthesiology_102_531 K12R_human-BCHE Natural mutation;;Mikami_2008_Pharmacogenet.Genomics_18_213 V294M_human-BCHE Natural mutation;;Mikami_2008_Pharmacogenet.Genomics_18_213 G333C_human-BCHE Natural mutation;;Mikami_2008_Pharmacogenet.Genomics_18_213 R470W_human-BCHE Natural mutation;;Mikami_2008_Pharmacogenet.Genomics_18_213 G75R_human-BCHE Natural mutation;;Souza_2005_Mol.Genet.Metab_84_349 E90D_human-BCHE Natural mutation;salt bridge undergoes rapid degradation ;Mikami_2007_Pharmacogenet.Genomics_17_681Souza_2005_Mol.Genet.Metab_84_349 E90D_human-BCHE Natural mutation;salt bridge;Souza_2005_Mol.Genet.Metab_84_349 I99M_human-BCHE Natural mutation;;Souza_2005_Mol.Genet.Metab_84_349 Q172X_human-BCHE Natural mutation;Silent variant;Gatke_2001_Anesthesiology_95_600 A184V_human-BCHE Natural mutation;Silent variant;Greenberg_1995_Anesth.Analg_81_419 S203P_human-BCHE Natural mutation;;Hidaka_2001_Clin.Chim.Acta_303_61 E271X_human-BCHE Natural mutation;Silent phenotype, Non producer;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 E255D_human-BCHE Natural mutation;Silent phenotype, Non producer;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 IVS2E3-8G_human-BCHE Natural mutation;Silent phenotype, splicing defect;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 IVS3E4-14C_human-BCHE Natural mutation;I3E4-14C Silent phenotype, splicing defect;Gatke_2007_Pharmacogenet.Genomics_17_995 IVS3E4-14C_human-BCHE Natural mutant;Probably no effect;Parmo-Folloni_2008_Chem.Biol.Interact_175_135 E451X_human-BCHE Silent variant; Natural mutation Silent phenotype;Dey_1998_Ann.Clin.Biochem_35_302 A328D_human-BCHE Silent variant;Natural mutant;Gatke_2007_Pharmacogenet.Genomics_17_995 N106KfsX22_human-BCHE Silent variant;Natural mutation p.N134KfsX22 Silent phenotype, A insertion ;Yen_2003_Clin.Chem_49_1297 N106KfsX22_human-BCHE Silent variant;Natural mutation Silent phenotype, A insertion ;On-Kei Chan_2005_Clin.Chim.Acta_351_155 K-4X_human-BCHE Natural mutation;Silent variant;Yu_2018_BMC.Med.Genet_19_58 E460K_human-BCHE Silent variant;Natural mutation Silent variant ? heterozygous missense mutation GAG to AAG;Yen_2003_Clin.Chem_49_1297 N96Y_human-BCHE Succinylcholine hydrolysis;Natural mutation hypocholinesterasemia heterozygous missense mutation AAT to TAT, N in SEDLYLN ;Yen_2003_Clin.Chem_49_1297 R424X_human-BCHE Silent variant; Natural mutation Silent variant heterozygous compound with N106KfsX22 ;Yen_2003_Clin.Chem_49_1297 F28I_human-BCHE Succinylcholine hydrolysis;Natural mutation Succinylcholine hydrolysis heterozygous missense mutation compound with heterozygous for dibucaine and K variant;Yen_2003_Clin.Chem_49_1297 R386C_human-BCHE Succinylcholine hydrolysis;Natural mutation Succinylcholine hydrolysis C to T substitution;Yen_2003_Clin.Chem_49_1297 R386C_human-BCHE Succinylcholine hydrolysis;Natural mutation Succinylcholine hydrolysis C to T substitution ;On-Kei Chan_2005_Clin.Chim.Acta_351_155 R386C_human-BCHE Natural mutation; no activity;Brazzolotto_2021_Pharmacogenomics.J_21_165 D70H_human-BCHE Peripheral anionic site;Natural variant Higher Km for charged substrates;Boeck_2002_Ann.Clin.Biochem_39_154 I5T_human-BCHE Succinylcholine hydrolysis;Natural mutation Succinylcholine hydrolysis;Dell-Kuster_2015_Eur.J.Anaesthesiol_32_687 V178I_human-BCHE Succinylcholine hydrolysis;Natural mutation Succinylcholine hydrolysis;Dell-Kuster_2015_Eur.J.Anaesthesiol_32_687 W231S_human-BCHE Succinylcholine hydrolysis;Natural mutation Succinylcholine hydrolysis;Dell-Kuster_2015_Eur.J.Anaesthesiol_32_687 H126CfsX2_human-BCHE Silent variant;Natural mutation Silent phenotype;Gatke_2007_Pharmacogenet.Genomics_17_995 L125F_human-BCHE Silent variant;Natural mutation Silent phenotype;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 A201T_human-BCHE Silent variant:Natural mutation Silent phenotype;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 Y33C_human-BCHE Silent variant; Natural mutation Silent phenotype;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 A199V_human-BCHE Silent variant; Natural mutation Low activity;Sakamoto_1998_Clin.Chim.Acta_274_159 T315S_human-BCHE Natural mutation;half normal activity;Liu_2002_Clin.Chim.Acta_326_193 E497V_human-BCHE Natural mutation;J-variant (E1j) low level in serum;Bartels_1992_Am.J.Hum.Genet_50_1104 E497V_human-BCHE J-variant;low level in serum;Bartels_1992_Am.J.Hum.Genet_50_1104 D70G/A539T_human-BCHE Natural mutation;A539T co appears with D70G natural mutation;Bartels_1992_Am.J.Hum.Genet_50_1086 VFGGTVT20-26del_human-BChE Natural mutation; no activity;Brazzolotto_2021_Pharmacogenomics.J_21_165 L88H_human-BChE Natural mutation; two third of normal activity;Brazzolotto_2021_Pharmacogenomics.J_21_165 I140del_human-BChE Natural mutation; no activity;Brazzolotto_2021_Pharmacogenomics.J_21_165 V142M_human-BCHE Natural mutation;H-variant/low activity;Jensen_1992_Pharmacogenet_2_234 C400X_human-BCHE Silent variant;Natural Non-sens mutation, Silent phenotype;Hidaka_1997_Clin.Chim.Acta_261_27 C400X_human-BCHE Natural mutation;Natural Non-sens mutation, Silent phenotype;Hidaka_1997_Clin.Chim.Acta_261_27 c-116G>A_human-BCHE SNP;lower mean BChE activity;Lima_2013_Gene_532_24 c1914G>A_human-BCHE SNP;lower mean BChE activity;Lima_2013_Gene_532_24

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