Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Fluoride-resistant Natural mutation Fluoride-resistant mutant low BChE Sudo_1997_Biochem.Biophys.Res.Commun_240_372
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Fluoride-resistant
Torpedo_number : 332
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.L330I Leu330Ile (p.L358I Leu358Ile in primary sequence with 28 amino-acids signal peptide) (from OMIM) Hypocholinesterasemia, fluoride-resistant, japanese type\; Sudo et al. (1997) found low serum BCHE activity on examination of a 63-year-old Japanese man. Secondary hypocholinesterasemia due to agricultural chemical poisoning and severe hepatic dysfunction were excluded. The phenotyping analysis revealed a reduced dibucaine number (DN) and an especially low fluoride number (FN). The investigators identified a homozygous leu330ile (L330I) missense mutation in the BCHE gene of the patient. The DN and FN of recombinant BCHE(L330I) secreted by human fetal kidney cells were compared to recombinant wildtype BCHE and normal serum BCHE. The results established that the L330I amino acid substitution indeed caused the abnormal DN and FN. Sudo et al. (1997) concluded that L330I is a Japanese type fluoride-resistant allele. Individuals heterozygous for the L330I mutation were identified.
| Title : Novel mutation and multiple mutations found in the human butyrylcholinesterase gene - Liu_2002_Clin.Chim.Acta_326_193 |
| Author(s) : Liu W , Cheng J , Iwasaki A , Imanishi H , Hada T |
| Ref : Clinica Chimica Acta , 326 :193 , 2002 |
| Abstract : |
| PubMedSearch : Liu_2002_Clin.Chim.Acta_326_193 |
| PubMedID: 12417112 |
| Title : Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure - Asanuma_1999_Clin.Chim.Acta_283_33 |
| Author(s) : Asanuma K , Yagihashi A , Uehara N , Kida T , Watanabe N |
| Ref : Clinica Chimica Acta , 283 :33 , 1999 |
| Abstract : |
| PubMedSearch : Asanuma_1999_Clin.Chim.Acta_283_33 |
| PubMedID: 10404729 |
| Title : [Dibucaine number (DN) and fluoride number (FN) of L330 I mutant recombinant cholinesterase by use of various substrates] - Akizuki_1999_Rinsho.Byori_47_479 |
| Author(s) : Akizuki S , Sudo K , Abe M , Abe I , Nakajima T , Ohnishi A , Maekawa M |
| Ref : Rinsho Byori , 47 :479 , 1999 |
| Abstract : |
| PubMedSearch : Akizuki_1999_Rinsho.Byori_47_479 |
| PubMedID: 10375971 |
| Title : Butyrylcholinesterase genes in individuals with abnormal inhibition numbers and with trace activity: one common mutation and two novel silent genes - Dey_1998_Ann.Clin.Biochem_35_302 |
| Author(s) : Dey DC , Maekawa M , Sudo K , Kanno T |
| Ref : Annals of Clinical Biochemistry , 35 :302 , 1998 |
| Abstract : |
| PubMedSearch : Dey_1998_Ann.Clin.Biochem_35_302 |
| PubMedID: 9547905 |
| Gene_locus related to this paper: human-BCHE |
| Title : Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells - Sudo_1997_Biochem.Biophys.Res.Commun_240_372 |
| Author(s) : Sudo K , Maekawa M , Akizuki S , Magara T , Ogasawara H , Tanaka T |
| Ref : Biochemical & Biophysical Research Communications , 240 :372 , 1997 |
| Abstract : |
| PubMedSearch : Sudo_1997_Biochem.Biophys.Res.Commun_240_372 |
| PubMedID: 9388484 |
| Gene_locus related to this paper: human-BCHE |
| Title : Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan - Maekawa_1997_Clin.Chem_43_924 |
| Author(s) : Maekawa M , Sudo K , Dey DC , Ishikawa J , Izumi M , Kotani K , Kanno T |
| Ref : Clinical Chemistry , 43 :924 , 1997 |
| Abstract : |
| PubMedSearch : Maekawa_1997_Clin.Chem_43_924 |
| PubMedID: 9191541 |