Q119X_human-BCHE

General

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Silent variant Natural mutation Silent phenotype Maekawa_1997_Clin.Chem_43_924

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis

Modification : Silent variant || Truncated

Torpedo_number : 121

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.Q119X Gln119Ter (p.Q147X Gln147Ter in primary sequence with 28 amino-acids signal peptide) Silent phenotype

References (3)

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

Title : Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan - Maekawa_1997_Clin.Chem_43_924
Author(s) : Maekawa M , Sudo K , Dey DC , Ishikawa J , Izumi M , Kotani K , Kanno T
Ref : Clinical Chemistry , 43 :924 , 1997
Abstract :
PubMedSearch : Maekawa_1997_Clin.Chem_43_924
PubMedID: 9191541

Title : Three different point mutations in the butyrylcholinesterase gene of three Japanese subjects with a silent phenotype: possible Japanese type alleles - Sudo_1996_Clin.Biochem_29_165
Author(s) : Sudo K , Maekawa M , Kanno T , Akizuki S , Magara T
Ref : Clinical Biochemistry , 29 :165 , 1996
Abstract :
PubMedSearch : Sudo_1996_Clin.Biochem_29_165
PubMedID: 8601326