Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Expression atypical silent phenotype Delacour_2014_Biochem.Pharmacol_92_476
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Expression || Silent variant Natural mutation
Torpedo_number : 36
Kinetic Parameter : No kinetic parameter
News : OCTOBER-01-2014
Comment :
p.A34V Ala34Val c.185C>T (p.A62V Ala62Val in primary sequence with 28 amino-acids signal peptide) in a compound heterozygote with D70G prolonged neuromuscular block after administration of suxamethonium or mivacurium. Daughter of the proband simple heterozygote had normal BChE activity
| Title : Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), silent with mivacurium - Delacour_2014_Biochem.Pharmacol_92_476 |
| Author(s) : Delacour H , Lushchekina SV , Mabboux I , Ceppa F , Masson P , Schopfer LM , Lockridge O |
| Ref : Biochemical Pharmacology , 92 :476 , 2014 |
| Abstract : |
| PubMedSearch : Delacour_2014_Biochem.Pharmacol_92_476 |
| PubMedID: 25264279 |