VFGGTVT20-26del_human-BChE

General

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

References (1)

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
PubMedID: 33024248