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Mutation Report for: L330I_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|L330I
Torpedo number|332
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.
Kinetic parameters|none

    Title: Novel mutation and multiple mutations found in the human butyrylcholinesterase gene
    Liu W, Cheng J, Iwasaki A, Imanishi H, Hada T
    Ref: Clinica Chimica Acta, 326:193, 2002 : PubMed


    Title: [Dibucaine number (DN) and fluoride number (FN) of L330 I mutant recombinant cholinesterase by use of various substrates]
    Akizuki S, Sudo K, Abe M, Abe I, Nakajima T, Ohnishi A, Maekawa M
    Ref: Rinsho Byori, 47:479, 1999 : PubMed


    Title: Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure
    Asanuma K, Yagihashi A, Uehara N, Kida T, Watanabe N
    Ref: Clinica Chimica Acta, 283:33, 1999 : PubMed


    Title: Butyrylcholinesterase genes in individuals with abnormal inhibition numbers and with trace activity: one common mutation and two novel silent genes
    Dey DC, Maekawa M, Sudo K, Kanno T
    Ref: Annals of Clinical Biochemistry, 35:302, 1998 : PubMed


    Title: Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan
    Maekawa M, Sudo K, Dey DC, Ishikawa J, Izumi M, Kotani K, Kanno T
    Ref: Clinical Chemistry, 43:924, 1997 : PubMed


    Title: Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells
    Sudo K, Maekawa M, Akizuki S, Magara T, Ogasawara H, Tanaka T
    Ref: Biochemical & Biophysical Research Communications, 240:372, 1997 : PubMed


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