Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation Hidaka_2001_Clin.Chim.Acta_303_61
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Natural mutation
Torpedo_number : 205
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.S203P Ser203Pro c.607T>C (p.S231P Ser231Pro in primary sequence with 28 amino-acids signal peptide) Found in a compound heterozygote with the G365R(G393R) mutation
| Title : Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping - Hidaka_2001_Clin.Chim.Acta_303_61 |
| Author(s) : Hidaka K , Watanabe Y , Tomita M , Ueda N , Higashi M , Minatogawa Y , Iuchi I |
| Ref : Clinica Chimica Acta , 303 :61 , 2001 |
| Abstract : Hidaka_2001_Clin.Chim.Acta_303_61 |
| ESTHER : Hidaka_2001_Clin.Chim.Acta_303_61 |
| PubMedSearch : Hidaka_2001_Clin.Chim.Acta_303_61 |
| PubMedID: 11163024 |