Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation Silent phenotype 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
Torpedo_number : 7
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.I6LfsX9 Ile6LeufsTer9 c16Adel ATT>TT (p.I6LfsX9 Ile6LeufsTer9 in primary sequence with 28 amino-acids signal peptide) Framshift due to one base delition truncated Silent phenotype also known as Sil-2
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 |
Title : Heterogeneity of the Silent Phenotype of Human Butyrylcholinesterase - Identification of Eight New Mutations - |
Author(s) : Primo-Parmo SL , Bartels CF |
Ref : In Multidisciplinary approaches to cholinesterase functions - Proceedings of Fourth International Meeting on Cholinesterases , (Shafferman, A. and Velan, B., Eds) Plenum Press, New York :61 , 1992 |
PubMedID: |