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
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 |
Abstract : Primo-Parmo_1996_Am.J.Hum.Genet_58_52 |
ESTHER : Primo-Parmo_1996_Am.J.Hum.Genet_58_52 |
PubMedSearch : Primo-Parmo_1996_Am.J.Hum.Genet_58_52 |
PubMedID: 8554068 |