Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation Silent variant Manoharan_2006_Pharmacogenet.Genomics_16_461
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 : 309
Kinetic Parameter : No kinetic parameter
News : JULY-05-2006
Comment :
p.L307P Leu307Pro c920T>C (p.L335P Leu335Pro in primary sequence with 28 amino-acids signal peptide) Silent variant
| Title : The allele frequency of T920C mutation in butyrylcholinesterase gene is high in an Indian population - David_2015_Gene_555_409 |
| Author(s) : David SM , Soundararajan L , Boopathy R |
| Ref : Gene , 555 :409 , 2015 |
| Abstract : |
| PubMedSearch : David_2015_Gene_555_409 |
| PubMedID: 25447891 |
| Title : A medical health report on individuals with silent butyrylcholinesterase in the Vysya community of India - Manoharan_2007_Clin.Chim.Acta_378_128 |
| Author(s) : Manoharan I , Boopathy R , Darvesh S , Lockridge O |
| Ref : Clinica Chimica Acta , 378 :128 , 2007 |
| Abstract : |
| PubMedSearch : Manoharan_2007_Clin.Chim.Acta_378_128 |
| PubMedID: 17182021 |
| Title : Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India - Manoharan_2006_Pharmacogenet.Genomics_16_461 |
| Author(s) : Manoharan I , Wieseler S , Layer PG , Lockridge O , Boopathy R |
| Ref : Pharmacogenet Genomics , 16 :461 , 2006 |
| Abstract : |
| PubMedSearch : Manoharan_2006_Pharmacogenet.Genomics_16_461 |
| PubMedID: 16788378 |
| Gene_locus related to this paper: human-BCHE |