Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural Non-sens mutation, Silent phenotype Hidaka_1997_Clin.Chim.Acta_261_27 || Natural mutation Natural Non-sens mutation, Silent phenotype Hidaka_1997_Clin.Chim.Acta_261_27
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Silent variant || Truncated || Natural mutation
Torpedo_number : 402
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.C400X Cys400Ter (p.C428X Cys428Ter in primary sequence with 28 amino-acids signal peptide) Non-sens mutation, Silent phenotype
| Title : Nonsense mutation in exon 2 of the butyrylcholinesterase gene: a case of familial cholinesterasemia - Hidaka_1997_Clin.Chim.Acta_261_27 |
| Author(s) : Hidaka K , Iuchi I , Yamasaki T , Ueda N , Hukano K |
| Ref : Clinica Chimica Acta , 261 :27 , 1997 |
| Abstract : Hidaka_1997_Clin.Chim.Acta_261_27 |
| ESTHER : Hidaka_1997_Clin.Chim.Acta_261_27 |
| PubMedSearch : Hidaka_1997_Clin.Chim.Acta_261_27 |
| PubMedID: 9187502 |