Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation Silent phenotype Takagi_1997_Internat.Hepat.Com_6_288
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Silent variant
Torpedo_number : 517
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.R515C Arg515Cys c.1543 (CGT-TGT) (p.R543C Arg543Cys in primary sequence with 28 amino-acids signal peptide) Silent variant Silent phenotype
| Title : Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure - Asanuma_1999_Clin.Chim.Acta_283_33 |
| Author(s) : Asanuma K , Yagihashi A , Uehara N , Kida T , Watanabe N |
| Ref : Clinica Chimica Acta , 283 :33 , 1999 |
| Abstract : Asanuma_1999_Clin.Chim.Acta_283_33 |
| ESTHER : Asanuma_1999_Clin.Chim.Acta_283_33 |
| PubMedSearch : Asanuma_1999_Clin.Chim.Acta_283_33 |
| PubMedID: 10404729 |
| 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 : A new point mutation in cholinesterase: relationship between multiple mutation sites and enzyme activity - Takagi_1997_Internat.Hepat.Com_6_288 |
| Author(s) : Takagi H , Narahara A , Takayama H , Shimoda R , Nagamine T , Mori M |
| Ref : International Hepatology Communications , 6 :288 , 1997 |
| Abstract : Takagi_1997_Internat.Hepat.Com_6_288 |
| ESTHER : Takagi_1997_Internat.Hepat.Com_6_288 |
| PubMedSearch : Takagi_1997_Internat.Hepat.Com_6_288 |
| PubMedID: |
| 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 |