Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation Silent phenotype,extremely low BChE activity Hidaka_1997_Am.Hum.Genet_61_491
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 : 130
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.Y128C Tyr128Cys (p.Y156C Tyr156Cys in primary sequence with 28 amino-acids signal peptide) (from OMIM) Butyrylcholinesterase deficiency\; Hidaka et al. (1997) demonstrated homozygosity for a tyr128-to-cys (Y128C) amino acid substitution resulting from an A-to-G transition in the BCHE gene. The propositus had extremely low BChE activity, whereas 3 other individuals thought to represent heterozygotes had intermediate or low to normal levels. rs1219118558
| Title : Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency - Hidaka_1997_Ann.Hum.Genet_61_491 |
| Author(s) : Hidaka K , Iuchi I , Tomita M , Watanabe Y , Minatogawa Y , Iwasaki K , Gotoh K , Shimizu C |
| Ref : Ann Hum Genet , 61 :491 , 1997 |
| Abstract : Hidaka_1997_Ann.Hum.Genet_61_491 |
| ESTHER : Hidaka_1997_Ann.Hum.Genet_61_491 |
| PubMedSearch : Hidaka_1997_Ann.Hum.Genet_61_491 |
| PubMedID: 9543549 |