Report for: Data built from an AQL search

 
36 rows returned
Mutation
Asp260GlufsX39_human-CES1
A158V_human-CES1 p.Ala158Val Nucleotide change C581T rs202121317 Natural mutant
A269S_human-CES1 p.Ala269Ser Nucleotide change G913T rs115629050 Natural mutant
CES1VAR_human-CES1 a genomic translocation of the 5' region from the poorly expressed pseudogene CES1P1, to CES1, yielding the structural variant CES1VAR Natural mutant
D203E/A269S_human-CES1 p.Asp203Glu/Ala269Ser Natural mutant
D203E_human-CES1 p.Asp203Glu Nucleotide change C717A rs2307227 Natural mutant
D260EfsX39_human-CES1 P.D260EfsX39 Asp260GlufsX39 c.888delT rs778068631 activation of the antiviral prodrug oseltamivir is impaired Natural mutant
D260frameshift_human-CES1 D260frameshift Natural mutant
E220G_human-CES1 p.Glu220Gly Nucleotide change A767G rs200707504 Natural mutant
G142E_human-CES1 P.Gly142Glu Nucleotide change G533A rs121912777 Natural mutant
G143E_human-CES1 p.G143E Gly143Glu c.428G>A (rs71647871) Natural mutant
G147C_human-CES1 p.Gly147Cys Nucleotide change G547T rs146456965 Natural mutant
G173D_human-CES1 p.Gly173Asp Nucleotide change G626A rs4784575 Natural mutant
H284Q_human-CES1 p.His284Gln Nucleotide change C960G rs114119971 Natural mutant
L40X_human-CES1 p.L40X Leu40Ter Nucleotide change T227G rs151291296 (p.L68X Leu68Ter in the primary sequence with the 28 amino-acids signal peptide) Natural mutant
N340K_human-CES1 P.Asn340Lys Nucleotide change T1128G rs576295379 Natural mutant
Q169P_human-CES1 p.Gln169Pro Nucleotide change A614C rs143718310 Natural mutant
R171C_human-CES1 p.Arg171Cys Nucleotide change C619T rs201065375 Natural mutant
R186P_human-CES1 p.Arg186Pro Nucleotide change G665C Natural mutant
R199H_human-CES1 p.Arg199His Nucleotide change G704A rs2307243 Natural mutant
S75N/D203E/A269S_human-CES1 p.Ser75Asn/Asp203Glu/Ala269Ser Natural mutant
S75N_human-CES1 p.Ser75Asn Nucleotide change G332A rs2307240 Natural mutant
S75N_human-CES1 p.Ser75ASn rs2307240 C>T Natural mutant
T167S_human-CES1 p.T167S Nucleotide change C608G rs147694791 Natural mutant
T290M_human-CES1 p.Thr290Met Nucleotide change C977T rs202001817 Natural mutant
Y170D_human-CES1 p.Tyr170Asp Nucleotide change T616G rs148947808 Natural mutant
G143E_human-CES1 p.G143E Gly143Glu c.428G>A (rs71647871) Site directed mutagenesis
G143H_human-CES1 p.Gly143His Site directed mutagenesis
L363E_human-CES1 Site directed mutagenesis
L363Q_human-CES1 Site directed mutagenesis
V146H/L363E_human-CES1 Site directed mutagenesis
V146H/L363Q_human-CES1 Site directed mutagenesis
V146H_human-CES1 Site directed mutagenesis
V146Q/L363E_human-CES1 Site directed mutagenesis
V146Q/L363Q_human-CES1 Site directed mutagenesis
V146Q_human-CES1 Site directed mutagenesis

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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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