Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation one I deleted, I4 deleted (CAT deleted) GAAGATGACATCATAATT to GAAGATGACATAATT Maekawa_1997_Clin.Chem_43_924
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 : 5
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.I4del Ile4del (CAT codon 4 deleted) GAAGATGACATCATAATT to GAAGATGACATAATT (p.I32del Ile32del in primary sequence with 28 amino-acids signal peptide) Silent variant
| Title : Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan - Maekawa_1997_Clin.Chem_43_924 |
| Author(s) : Maekawa M , Sudo K , Dey DC , Ishikawa J , Izumi M , Kotani K , Kanno T |
| Ref : Clinical Chemistry , 43 :924 , 1997 |
| Abstract : Maekawa_1997_Clin.Chem_43_924 |
| ESTHER : Maekawa_1997_Clin.Chem_43_924 |
| PubMedSearch : Maekawa_1997_Clin.Chem_43_924 |
| PubMedID: 9191541 |