NM_000015.3(NAT2):c.191G>A (p.Arg64Gln) AND Slow acetylator due to N-acetyltransferase enzyme variant

Germline classification:: drug response (1 submission)
Last evaluated:: Oct 28, 2012
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:: RCV000000762.1

Allele description [Variation Report for NM_000015.3(NAT2):c.191G>A (p.Arg64Gln)]

NM_000015.3(NAT2):c.191G>A (p.Arg64Gln)

Gene:

NAT2:N-acetyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p22

Genomic location:

Preferred name:

NM_000015.3(NAT2):c.191G>A (p.Arg64Gln)

HGVS:

NC_000008.11:g.18400194G>A
NG_012246.1:g.13950G>A
NM_000015.3:c.191G>AMANE SELECT
NP_000006.2:p.Arg64Gln
NC_000008.10:g.18257704G>A
NM_000015.2:c.191G>A

Nucleotide change:

191G-A

Protein change:

R64Q

Links:

OMIM: 612182.0005; dbSNP: rs1801279

NCBI 1000 Genomes Browser:

rs1801279

Molecular consequence:

NM_000015.3:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Slow acetylator due to N-acetyltransferase enzyme variant
Synonyms:: INH INACTIVATION, SLOW; ISONIAZID INACTIVATION, SLOW; SLOW ACETYLATOR PHENOTYPE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009472; MedGen: C0878587; OMIM: 243400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020912	OMIM	no assertion criteria provided	drug response (Oct 28, 2012)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8102597, 9156695

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020912

OMIM

no assertion criteria provided

drug response
(Oct 28, 2012)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Genotype/phenotype discordance for human arylamine N-acetyltransferase (NAT2) reveals a new slow-acetylator allele common in African-Americans.

Bell DA, Taylor JA, Butler MA, Stephens EA, Wiest J, Brubaker LH, Kadlubar FF, Lucier GW.

Carcinogenesis. 1993 Aug;14(8):1689-92.

PubMed [citation]

PMID:: 8102597

Genotyping of the polymorphic N-acetyltransferase (NAT2*) gene locus in two native African populations.

Deloménie C, Sica L, Grant DM, Krishnamoorthy R, Dupret JM.

Pharmacogenetics. 1996 Apr;6(2):177-85.

PubMed [citation]

PMID:: 9156695

Details of each submission

From OMIM, SCV000020912.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Bell et al. (1993) demonstrated a 191G-A nucleotide substitution as the basis of slow acetylation (243400) in African Americans. In a study of 117 unrelated Black Africans, Delomenie et al. (1996) confirmed the African origin of the mutation. No excess of the slow acetylator phenotype was found in the 2 Black-African populations studied, Dogons from Mali and Gabonese, implying no need for fitting NAT2 polymorphism-sensitive therapies to black Africans, compared to Caucasians.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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