G390V_human-BCHE

General

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Fluoride-resistant Fluoride-2 variant\/succinylcholine resistance Nogueira_1992_Am.J.Hum.Genet_51_821 Masson_1993_J.Biol.Chem_268_14329 || Natural mutation Succinylcholine resistance Nogueira_1992_Am.J.Hum.Genet_51_821 Masson_1993_J.Biol.Chem_268_14329

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis

Modification : Fluoride-resistant || Natural mutation

Torpedo_number : 392

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.G390V Glu390Val (p.G418V Glu418Val in primary sequence with 28 amino-acids signal peptide) also known as F-2 Fluoride-resistant\;Fluoride-2 variant\/succinylcholine resistance CHE*390V also known as F-2

References (2)

Title : Recombinant human butyrylcholinesterase G390V, the fluoride-2 variant, expressed in Chinese hamster ovary cells, is a low affinity variant - Masson_1993_J.Biol.Chem_268_14329
Author(s) : Masson P , Adkins S , Gouet P , Lockridge O
Ref : Journal of Biological Chemistry , 268 :14329 , 1993
Abstract :
PubMedSearch : Masson_1993_J.Biol.Chem_268_14329
PubMedID: 8314794

Title : Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase - Nogueira_1992_Am.J.Hum.Genet_51_821
Author(s) : Nogueira CP , Bartels CF , McGuire MC , Adkins S , Lubrano T , Rubinstein HM , Lightstone H , van der Spek AF , Lockridge O , La Du BN
Ref : American Journal of Human Genetics , 51 :821 , 1992
Abstract :
PubMedSearch : Nogueira_1992_Am.J.Hum.Genet_51_821
PubMedID: 1415224