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
Torpedo_number : 420
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.F418S Phe418Ser (p.F446S Phe446Ser in primary sequence with 28 amino-acids signal peptide) Silent variant 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 : |
| 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 : |
| PubMedSearch : Maekawa_1995_Clin.Chim.Acta_235_41 |
| PubMedID: 7634491 |