Gene Locus : No gene locus
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation no activity Brazzolotto_2021_Pharmacogenomics.J_21_165
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 22, 23, 24, 25, 26, 27, 28, 22,23,24,25,26,27,28
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.20delValPheGlyGlyThrValThr c.142_162del deletion of seven amino acids. Mutation found in a compound heterozygote with D70G\/A539T (K and Atypycal variant) in a 85 year old woman patient with moderate BChE deficiency. Mutant transiently expresses in CHO cells presented no activity
| Title : Characterization of four BCHE mutations associated with prolonged effect of suxamethonium - Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| Author(s) : Brazzolotto X , Courcelle S , Sauvanet C , Guillon V , Igert A , Kononchik J , Nachon F , Ceppa F , Delacour H |
| Ref : Pharmacogenomics J , 21(2):165-173 : , 2021 |
| Abstract : Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| ESTHER : Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| PubMedSearch : Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| PubMedID: 33024248 |