Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation Silent phenotype, GA insertion Hohler_1995_J.Med.Genet_32_109 || Silent variant Natural mutation Silent phenotype,GGT->GGAG Nogueira_1990_Am.J.Hum.Genet_46_934 || Natural mutation Mabboux_2016_Arch.Pediatr_23_497
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 : 120
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.F118VfsX11 Phe118ValfsX11 (p.F146VfsX11 Phe146ValfsX11 in primary sequence with 28 amino-acids signal peptide) Gly117fs Gly117>Gly117 F118V GGT>GGAG G117frameshift_human-BCHE means that after the G it si different. (from OMIM) Ann Arbor CHE*FS117 This variant was first described by Liddell et al. (1962). It may have a homozygote frequency of 1:100,000. Deletion\/insertion variation\; c.435 delT insAG\; p.Phe118Valfs*12 (rs398124632) mutation found in a compound heterozygote together with p.Asp70Gly (rs1799807), p.Ala539Tyr (rs1803274). Prolonged neuromuscular block after administration of succinylcholine in a 14-year-old boy
| Title : [Prolonged neuromuscular block in a patient with butyrylcholinesterase deficiency] - Mabboux_2016_Arch.Pediatr_23_497 |
| Author(s) : Mabboux I , Hary B , Courcelle S , Ceppa F , Delacour H |
| Ref : Arch Pediatr , 23 :497 , 2016 |
| Abstract : Mabboux_2016_Arch.Pediatr_23_497 |
| ESTHER : Mabboux_2016_Arch.Pediatr_23_497 |
| PubMedSearch : Mabboux_2016_Arch.Pediatr_23_497 |
| PubMedID: 27017361 |
| Title : Cholinesterase variants: rapid characterisation by PCR\/SSCP and evidence for molecular homogeneity - Hohler_1995_J.Med.Genet_32_109 |
| Author(s) : Hohler T , Hundt M , Rittner C , Schneider PM , Meyer zum Buschenfelde KH |
| Ref : Journal of Medical Genetics , 32 :109 , 1995 |
| Abstract : Hohler_1995_J.Med.Genet_32_109 |
| ESTHER : Hohler_1995_J.Med.Genet_32_109 |
| PubMedSearch : Hohler_1995_J.Med.Genet_32_109 |
| PubMedID: 7760318 |
| Title : [Gene analysis of human cholinesterase variants]. - Muratani_1993_Japanese.J.Clin.Med_51_495 |
| Author(s) : Muratani K , Hada T , Higashino K |
| Ref : Nippon Rinsho Japanese Journal of Clinical Medicine , 51 :495 , 1993 |
| Abstract : Muratani_1993_Japanese.J.Clin.Med_51_495 |
| ESTHER : Muratani_1993_Japanese.J.Clin.Med_51_495 |
| PubMedSearch : Muratani_1993_Japanese.J.Clin.Med_51_495 |
| PubMedID: 8464162 |
| Title : Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG) - Nogueira_1990_Am.J.Hum.Genet_46_934 |
| Author(s) : Nogueira CP , McGuire MC , Graeser C , Bartels CF , Arpagaus M , van der Spek AF , Lightstone H , Lockridge O , La Du BN |
| Ref : American Journal of Human Genetics , 46 :934 , 1990 |
| Abstract : Nogueira_1990_Am.J.Hum.Genet_46_934 |
| ESTHER : Nogueira_1990_Am.J.Hum.Genet_46_934 |
| PubMedSearch : Nogueira_1990_Am.J.Hum.Genet_46_934 |
| PubMedID: 2339692 |
| Title : Identification of a frameshift mutation (gly 117, GGT-to-GGAG) responsible for a silent phenotype of human serum cholinesterase. (Abstract) - |
| Author(s) : Nogueira CP , McGuire MC , Bartels CF , van der Spek AF , Lightstone H , Lockridge O , La Du BN |
| Ref : American Journal of Human Genetics , 45 (suppl.) :A210 , 1989 |
| PubMedID: |