F418S_human-BCHE

General

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

References (2)

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