Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation\;Silent phenotype, Non producer\;Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61\;Primo-Parmo_1996_Am.J.Hum.Genet_58_52 || Silent phenotype\;Silent phenotype, Non producer\;Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61\;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 : 520
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.Q518L Gln518Leu (p.Q546L Gln546Leu in primary sequence with 28 amino-acids signal peptide) 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 |
| 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: |