W471R_human-BCHE

General

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Silent variant Natural mutation,Silent phenotype Non producer Primo-Parmo_1996_Am.J.Hum.Genet_58_52

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis

Modification : Silent variant || Natural mutation

Torpedo_number : 473

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.W471R Trp471Arg (p.W499R Trp499Arg in primary sequence with 28 amino-acids signal peptide) Natural mutation,Silent phenotype Non producer

References (1)

Title : Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene - Primo-Parmo_1996_Am.J.Hum.Genet_58_52
Author(s) : Primo-Parmo SL , Bartels CF , Wiersema B , van der Spek AF , Innis JW , La Du BN
Ref : American Journal of Human Genetics , 58 :52 , 1996
PubMedID: 8554068