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NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) AND Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 17, 1997
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000014130.25

Allele description [Variation Report for NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)]

NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)

Gene:
BCHE:butyrylcholinesterase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.1
Genomic location:
Preferred name:
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)
Other names:
L330I
HGVS:
  • NC_000003.12:g.165829962A>T
  • NG_009031.1:g.12504T>A
  • NM_000055.4:c.1072T>AMANE SELECT
  • NP_000046.1:p.Leu358Ile
  • NC_000003.11:g.165547750A>T
  • NM_000055.2:c.1072T>A
  • NM_000055.3:c.1072T>A
  • NR_137636.2:n.1190T>A
  • P06276:p.Leu358Ile
Protein change:
L358I; LEU330ILE
Links:
UniProtKB: P06276#VAR_002362; OMIM: 177400.0012; dbSNP: rs121918557
NCBI 1000 Genomes Browser:
rs121918557
Molecular consequence:
  • NM_000055.4:c.1072T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_137636.2:n.1190T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type
Identifiers:
MedGen: C1867469

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034378OMIM
no assertion criteria provided
Pathogenic
(Nov 17, 1997) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

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.

Biochem Biophys Res Commun. 1997 Nov 17;240(2):372-5.

PubMed [citation]
PMID:
9388484

Details of each submission

From OMIM, SCV000034378.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 29, 2025