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
| 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 : Masson_1993_J.Biol.Chem_268_14329 |
| ESTHER : Masson_1993_J.Biol.Chem_268_14329 |
| 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 : Nogueira_1992_Am.J.Hum.Genet_51_821 |
| ESTHER : Nogueira_1992_Am.J.Hum.Genet_51_821 |
| PubMedSearch : Nogueira_1992_Am.J.Hum.Genet_51_821 |
| PubMedID: 1415224 |