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NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) AND NAT1*17 ALLELE

Germline classification:
other (1 submission)
Last evaluated:
Apr 20, 2016
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:
RCV000019386.28

Allele description [Variation Report for NM_001160179.2(NAT1):c.445G>A (p.Val149Ile)]

NM_001160179.2(NAT1):c.445G>A (p.Val149Ile)

Gene:
NAT1:N-acetyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p22
Genomic location:
Preferred name:
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile)
HGVS:
  • NC_000008.11:g.18222492G>A
  • NG_012245.2:g.57031G>A
  • NM_000662.8:c.445G>AMANE SELECT
  • NM_001160170.4:c.445G>A
  • NM_001160171.4:c.445G>A
  • NM_001160172.4:c.445G>A
  • NM_001160173.4:c.445G>A
  • NM_001160174.3:c.445G>A
  • NM_001160175.4:c.631G>A
  • NM_001160176.4:c.631G>A
  • NM_001160179.3:c.445G>A
  • NM_001291962.2:c.631G>A
  • NP_000653.3:p.Val149Ile
  • NP_001153642.1:p.Val149Ile
  • NP_001153643.1:p.Val149Ile
  • NP_001153644.1:p.Val149Ile
  • NP_001153645.1:p.Val149Ile
  • NP_001153646.1:p.Val149Ile
  • NP_001153647.1:p.Val211Ile
  • NP_001153648.1:p.Val211Ile
  • NP_001153651.1:p.Val149Ile
  • NP_001278891.1:p.Val211Ile
  • NC_000008.10:g.18080001G>A
  • NM_001160175.1:c.631G>A
  • P18440:p.Val149Ile
Protein change:
V149I; VAL149ILE
Links:
UniProtKB: P18440#VAR_004607; OMIM: 108345.0002; dbSNP: rs4987076
NCBI 1000 Genomes Browser:
rs4987076
Molecular consequence:
  • NM_000662.8:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160170.4:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160171.4:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160172.4:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160173.4:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160174.3:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160175.4:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160176.4:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160179.3:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291962.2:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
NAT1*17 ALLELE
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039676OMIM
no assertion criteria provided
other
(Apr 20, 2016) 		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

Identification of a novel allele at the human NAT1 acetyltransferase locus.

Doll MA, Jiang W, Deitz AC, Rustan TD, Hein DW.

Biochem Biophys Res Commun. 1997 Apr 28;233(3):584-91.

PubMed [citation]
PMID:
9168895

Details of each submission

From OMIM, SCV000039676.1

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

Description

Doll et al. (1997) described a novel NAT1 allele that they designated NAT1*17. They found that it is similar to NAT1*11 except for a 445G-A nucleotide transition resulting in the amino acid substitution val149 to ile (V149I) in the NAT1 coding region. The V149I substitution yielded no significant changes in levels of immunoreactivity, as detected by Western blot, nor in intrinsic stability of the recombinant N-acetyltransferase protein. However, V149I yielded expression of recombinant NAT1 protein that catalyzed the N-acetylation of aromatic amines and the O- and N,O-acetylation of their N-hydroxylated metabolites at rates up to 2-fold higher than wildtype recombinant human NAT1.

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

Last Updated: Sep 29, 2024