Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation half normal activity Liu_2002_Clin.Chim.Acta_326_193
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Natural mutation Chinese variant
Torpedo_number : 317
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.T315S Thr315Ser (p.T343S Thr343Ser in the primary sequence with the 28 amino-acids signal peptide) Natural mutation\;half normal activity Chinese variant
Title : Novel mutation and multiple mutations found in the human butyrylcholinesterase gene - Liu_2002_Clin.Chim.Acta_326_193 |
Author(s) : Liu W , Cheng J , Iwasaki A , Imanishi H , Hada T |
Ref : Clinica Chimica Acta , 326 :193 , 2002 |
Abstract : |
PubMedSearch : Liu_2002_Clin.Chim.Acta_326_193 |
PubMedID: 12417112 |