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
| 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 |
| 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 : Maekawa_1997_Clin.Chem_43_924 |
| ESTHER : Maekawa_1997_Clin.Chem_43_924 |
| 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 : Sudo_1996_Clin.Biochem_29_165 |
| ESTHER : Sudo_1996_Clin.Biochem_29_165 |
| PubMedSearch : Sudo_1996_Clin.Biochem_29_165 |
| PubMedID: 8601326 |