CYP2C19*5 AND Mephenytoin, poor metabolism of

Clinical significance:drug response (Last evaluated: Apr 1, 1998)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018396.29

Allele description [Variation Report for CYP2C19*5]

NM_000769.1(CYP2C19):c.1297C>T (p.Arg433Trp)

Gene:
CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_000769.1(CYP2C19):c.1297C>T (p.Arg433Trp)
Other names:
CYP2C19*5
HGVS:
  • NC_000010.11:g.94852738C>T
  • NG_008384.3:g.95058C>T
  • NM_000769.4:c.1297C>TMANE SELECT
  • NP_000760.1:p.Arg433Trp
  • NC_000010.10:g.96612495C>T
Protein change:
R433W; ARG433TRP
Links:
OMIM: 124020.0002; dbSNP: rs56337013
NCBI 1000 Genomes Browser:
rs56337013
Molecular consequence:
  • NM_000769.4:c.1297C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mephenytoin, poor metabolism of
Identifiers:
MedGen: C1836024

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038678OMIMno assertion criteria provideddrug response
(Apr 1, 1998)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele.

Xiao ZS, Goldstein JA, Xie HG, Blaisdell J, Wang W, Jiang CH, Yan FX, He N, Huang SL, Xu ZH, Zhou HH.

J Pharmacol Exp Ther. 1997 Apr;281(1):604-9.

PubMed [citation]
PMID:
9103550

An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians.

Ibeanu GC, Blaisdell J, Ghanayem BI, Beyeler C, Benhamou S, Bouchardy C, Wilkinson GR, Dayer P, Daly AK, Goldstein JA.

Pharmacogenetics. 1998 Apr;8(2):129-35.

PubMed [citation]
PMID:
10022751

Details of each submission

From OMIM, SCV000038678.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This allelic variant is also known as CYP2C19*5.

In a Chinese individual of the Bai ethnic group who exhibited the poor mephenytoin metabolizer phenotype (609535), Xiao et al. (1997) identified compound heterozygosity for the CYP2C19m1 allele (124020.0001) and a novel C-to-T mutation at nucleotide 1297 in exon 9 of the CYP2C19 gene, resulting in an arg433-to-trp (R433W) substitution in the heme-binding region.

Ibeanu et al. (1998) also reported the CYP2C19*5 variant and estimated that the frequency of the allele is low in Chinese and Caucasians. The mutation abolished activity of recombinant enzyme toward S-mephenytoin and tolbutamide.

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

Last Updated: Jun 26, 2021

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