L330I_human-BCHE

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.