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 : 203
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.A201T Ala201Thr (p.A229T Ala229Thr in primary sequence with 28 amino-acids signal peptide) Silent phenotype
| 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 |