Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Succinylcholine hydrolysis Natural mutation Succinylcholine hydrolysis C to T substitution Yen_2003_Clin.Chem_49_1297 || Succinylcholine hydrolysis Natural mutation Succinylcholine hydrolysis C to T substitution On-Kei Chan_2005_Clin.Chim.Acta_351_155 || Natural mutation no activity Brazzolotto_2021_Pharmacogenomics.J_21_165 || Natural mutation heterozygous deletion mutation compound with heterozygous mutation 195EfsX38 Zeng_2024_Medicine.(Baltimore)_103_e39976
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Succinylcholine hydrolysis
Torpedo_number : 388
Kinetic Parameter : No kinetic parameter
News : OCTOBER-21-2004
Comment :
p.R386C Arg386Cys (p.R414C Arg414Cys in primary sequence with 28 amino-acids signal peptide) Found in an homozygous state in a 50 year old woman with almost total BChE deficiency 93U\/L
| Title : A novel BCHE frameshift mutation in a Chinese woman with butyrylcholinesterase deficiency: A case report and literature review - Zeng_2024_Medicine.(Baltimore)_103_e39976 |
| Author(s) : Zeng J , Yang D , Dai T , Xia J , Zheng Z |
| Ref : Medicine (Baltimore) , 103 :e39976 , 2024 |
| Abstract : |
| PubMedSearch : Zeng_2024_Medicine.(Baltimore)_103_e39976 |
| PubMedID: 39465744 |
| Gene_locus related to this paper: human-BCHE |
| Title : Characterization of four BCHE mutations associated with prolonged effect of suxamethonium - Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| Author(s) : Brazzolotto X , Courcelle S , Sauvanet C , Guillon V , Igert A , Kononchik J , Nachon F , Ceppa F , Delacour H |
| Ref : Pharmacogenomics J , 21(2):165-173 : , 2021 |
| Abstract : |
| PubMedSearch : Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| PubMedID: 33024248 |
| Title : Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity - On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| Author(s) : On-Kei Chan A , Lam CW , Tong SF , Man Tung C , Yung K , Chan YW , Au KM , Yuen YP , Hung CT , Ng KP , Shek CC |
| Ref : Clinica Chimica Acta , 351 :155 , 2005 |
| Abstract : |
| PubMedSearch : On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| PubMedID: 15563885 |
| Title : Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population - Yen_2003_Clin.Chem_49_1297 |
| Author(s) : Yen T , Nightingale BN , Burns JC , Sullivan DR , Stewart PM |
| Ref : Clinical Chemistry , 49 :1297 , 2003 |
| Abstract : |
| PubMedSearch : Yen_2003_Clin.Chem_49_1297 |
| PubMedID: 12881446 |