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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P18440: Variant p.Val149Ile

Arylamine N-acetyltransferase 1
Gene: NAT1
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Variant information Variant position: help 149
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 149 (V149I, p.Val149Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Polymorphism: help N-acetylation polymorphism is determined by a low or high NAT activity in liver and has been implicated in the action and toxicity of amine-containing drugs. Slow acetylation genotypes have been associated with significant lung cancer risk. Candidate risk factor for susceptibility to neural tube defects. The NAT1*10 allele has been associated with increased risk of colon and urinary bladder cancers and with higher levels of N-acetyltransferase activity and DNA adducts in aromatic amine tumor target organs such as colon and urinary bladder (PubMed:7585580).
Variant description: help In allele NAT1*11; catalyzes 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.
Other resources: help


Sequence information Variant position: help 149
Protein sequence length: help 290
Location on the sequence: help YQMWQPLELISGKDQPQVPC V FRLTEENGFWYLDQIRREQY
Residue conservation: help 
Human                         YQMWQPLELISGKDQPQVPCV--FRLTEENGFWYLDQIRREQY

Mouse                         YQMWEPLELTSGKDQPQVPAI--FLLTEENGTWYLDQIRRE

Rat                           YQMWEPLELTSGKDQPQVPAI--FRLTEENGTWYLDQIRRE

Bovine                        YQMWQPLELISGKYQPQTPCI--FRLTEDRGTWYLDQIRRE

Rabbit                        YQMWQPVELISGKDQPQVPSI--FRLREEGETWYLDQIRRQ

Chicken                       YQMWQPMELVSGKDQPQAPGI--FRFTEKNAIWYLEKMRRK

Slime mold                    LSL-RPVPITDDGSEVIESCIGLYRVIKRENI--VAGVYHY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 290 Arylamine N-acetyltransferase 1
Beta strand 149 – 155



Literature citations
Structural heterogeneity of Caucasian N-acetyltransferase at the NAT1 gene locus.
Vatsis K.P.; Weber W.W.;
Arch. Biochem. Biophys. 301:71-76(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS NAT1*11 ILE-149 AND ALA-214; Identification of a novel allele at the human NAT1 acetyltransferase locus.
Doll M.A.; Jiang W.; Deitz A.C.; Rustan T.D.; Hein D.W.;
Biochem. Biophys. Res. Commun. 233:584-591(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS NAT1*11 ILE-149 AND ALA-214; Homo sapiens arylamine N-acetyltransferase type 1 (NAT1) gene, allele NAT1*11B.
Johnson N.; Sim E.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-149 AND ALA-214; Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.
Patin E.; Barreiro L.B.; Sabeti P.C.; Austerlitz F.; Luca F.; Sajantila A.; Behar D.M.; Semino O.; Sakuntabhai A.; Guiso N.; Gicquel B.; McElreavey K.; Harding R.M.; Heyer E.; Quintana-Murci L.;
Am. J. Hum. Genet. 78:423-436(2006)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-149 AND ALA-214; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-149 AND ALA-214;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.