Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation Silent phenotype Takagi_1997_Internat.Hepat.Com_6_288
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Silent variant
Torpedo_number : 102
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.P100S Pro100ser (p.P128S Pro128ser in primary sequence with 28 amino-acids signal peptide) Silent phenotype
| 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 : |
| PubMedSearch : Hidaka_2001_Clin.Chim.Acta_303_61 |
| PubMedID: 11163024 |
| Title : A new point mutation in cholinesterase: relationship between multiple mutation sites and enzyme activity - Takagi_1997_Internat.Hepat.Com_6_288 |
| Author(s) : Takagi H , Narahara A , Takayama H , Shimoda R , Nagamine T , Mori M |
| Ref : International Hepatology Communications , 6 :288 , 1997 |
| Abstract : |
| PubMedSearch : Takagi_1997_Internat.Hepat.Com_6_288 |
| PubMedID: |