Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation Low activity Sakamoto_1998_Clin.Chim.Acta_274_159
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 : 201
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.A199V Ala199Val (p.A227V Ala227Val in primary sequence with 28 amino-acids signal peptide) silent variant low activity
| Title : Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia - Sakamoto_1998_Clin.Chim.Acta_274_159 |
| Author(s) : Sakamoto N , Hidaka K , Fujisawa T , Maeda M , Iuchi I |
| Ref : Clinica Chimica Acta , 274 :159 , 1998 |
| Abstract : |
| PubMedSearch : Sakamoto_1998_Clin.Chim.Acta_274_159 |
| PubMedID: 9694584 |