Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation Silent variant Maekawa_2004_Clin.Chem_50_2410
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Silent variant Natural mutation
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : Alu sequence and a direct repeat (300 + 15 bp) in exon2 AluYb8-- Paper Muratani et al. is a different insertion some nucleotide differences. Found in a compound heterozygote with G365R mutation
| Title : Problem with detection of an insertion-type mutation in the BCHE gene in a patient with butyrylcholinesterase deficiency - |
| Author(s) : Maekawa M , Taniguchi T , Ishikawa J , Toyoda S , Takahata N |
| Ref : Clinical Chemistry , 50 :2410 , 2004 |
| PubMedID: 15563496 |