Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation Silent phenotype Maekawa_1995_Clin.Chim.Acta_235_41
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 : 467
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.R465X Arg465Ter (p.R465X Arg465Ter in primary sequence with 28 amino-acids signal peptide) Silent variant\; Natural mutation Silent phenotype
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 : Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes - Maekawa_1995_Clin.Chim.Acta_235_41 |
Author(s) : Maekawa M , Sudo K , Kanno T , Kotani K , Dey DC , Ishikawa J , Izumi M , Etoh K |
Ref : Clinica Chimica Acta , 235 :41 , 1995 |
Abstract : Maekawa_1995_Clin.Chim.Acta_235_41 |
ESTHER : Maekawa_1995_Clin.Chim.Acta_235_41 |
PubMedSearch : Maekawa_1995_Clin.Chim.Acta_235_41 |
PubMedID: 7634491 |