T315S_human-BCHE

General

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

References (1)

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 : Liu_2002_Clin.Chim.Acta_326_193
ESTHER : Liu_2002_Clin.Chim.Acta_326_193
PubMedSearch : Liu_2002_Clin.Chim.Acta_326_193
PubMedID: 12417112