Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation Silent variant Gatke_2001_Anesthesiology_95_600
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 : 174
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.Q172X Gln172Ter c.514C>T CAG>TAG (p.Q200X Gln200Ter in primary sequence with 28 amino-acids signal peptide) Silent variant
| Title : Response to mivacurium in a patient compound heterozygous for a novel and a known silent mutation in the butyrylcholinesterase gene: genotyping by sequencing - Gatke_2001_Anesthesiology_95_600 |
| Author(s) : Gatke MR , Ostergaard D , Bundgaard JR , Varin F , Viby-Mogensen J |
| Ref : Anesthesiology , 95 :600 , 2001 |
| Abstract : |
| PubMedSearch : Gatke_2001_Anesthesiology_95_600 |
| PubMedID: 11575530 |