V204D_human-BCHE

General

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Expression atypical silent phenotype Delacour_2014_PLoS.One_9_e101552

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 : 206

Kinetic Parameter : No kinetic parameter

News : JULY-30-2014

Comment :
p.V204D Val204Asp (p.V232D Val232Asp in primary sequence with 28 amino-acids signal peptide) prolonged neuromuscular block after administration of suxamethonium

References (1)

Title : Characterization of a Novel BCHE Silent Allele: Point Mutation (p.Val204Asp) Causes Loss of Activity and Prolonged Apnea with Suxamethonium - Delacour_2014_PLoS.One_9_e101552
Author(s) : Delacour H , Lushchekina SV , Mabboux I , Bousquet A , Ceppa F , Schopfer LM , Lockridge O , Masson P
Ref : PLoS ONE , 9 :e101552 , 2014
PubMedID: 25054547