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
| 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 |
| Abstract : Delacour_2014_PLoS.One_9_e101552 |
| ESTHER : Delacour_2014_PLoS.One_9_e101552 |
| PubMedSearch : Delacour_2014_PLoS.One_9_e101552 |
| PubMedID: 25054547 |