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. Author manuscript; available in PMC: 2022 Jan 1.
Published in final edited form as: Expert Opin Drug Metab Toxicol. 2020 Nov 3;17(1):9–21. doi: 10.1080/17425255.2021.1840551

Table 1.

NAT2 SNPs and their corresponding alleles/haplotypesa.

NAT2 Allele (Haplotype) Nucleotide Change(s) and rs Identifiersb Amino Acid Change(s) Phenotypec
NAT2*4 Reference Reference Rapid
NAT2*5A 341T>C (rs1801280) 481C>T (rs1799929) I114T Slow
L161L (synonymous)
NAT2*5B 341T>C (rs1801280) 481C>T (rs1799929) 803A>G (rs1208)d I114T L161L (synonymous) Slow
K268R
NAT2*5C 341T>C (rs1801280) 803A>G (rs1208)d I114T K268R Slow
NAT2*5D 341T>C (rs1801280) I114T Slow
NAT2*5E 341T>C (rs1801280) 590G>A (rs1799930) I114T R197Q Slow
NAT2*5G 282C>T (rs1041983) 341T>C (rs1801280) 481C>T (rs1799929) 803A>G (rs1208)d Y94Y (synonymous) Slow
I114T L161L (synonymous)
K268R
NAT2*5I 341T>C (rs1801280) 411A>C (rs4986977) 481C>T (rs1799929) 803A>G (rs1208)d I114T L137F L161 (synonymous) K268R Slow
NAT2*5J 282C>T (rs1041983) 341T>C (rs1801280) Y94Y (synonymous) Slow
590G>A (rs1799930) I114T R197Q
NAT2*5K 282C>T (rs1041983) 341T>C (rs1801280) Y94Y (synonymous) Slow
I114T
NAT2*6A 282C>T (rs1041983) 590G>A (rs1799930) Y94Y (synonymous) Slow
R197Q
NAT2*6B 590G>A (rs1799930) R197Q Slow
NAT2*6C 282C>T (rs1041983) 590G>A (rs1799930) 803A>G (rs1208)d Y94Y (synonymous)
R197Q K268R
NAT2*6E 481C>T (rs1799929) 590G>A (rs1799930) L161L (synonymous)
R197Q
NAT2*6F 590G>A (rs1799930) R197Q K268R
803A>G (rs1208) d
NAT2*6J 282C>T (rs1041983) Y94Y (synonymous)
590G>A (rs1799930) R197Q
857G>A (rs1799931) G286E
NAT2*6N 282C>T (rs1041983) Y94Y (synonymous)
481C>T (rs1799929) L161L (synonymous)
590G>A (rs1799930) R197Q
NAT2*7A 857G>A (rs1799931) G286E Slow
NAT2*7B 282C>T (rs1041983) 857G>A (rs1799931) Y94Y (synonymous) Slow
G286E
NAT2*7C 282C>T (rs1041983) 803A>G (rs1208) d Y94Y (synonymous)
857G>A (rs1799931) K268R
G286E
NAT2*7D 191G>A (rs1801279) 282C>T (rs1041983) 857G>A (rs1799931) R64Q
Y94Y (synonymous)
G286E
NAT2*7E 282C>T (rs1041983) Y94Y (synonymous)
481C>T (rs1799929) L161L (synonymous)
857G>A (rs1799931) G286E
NAT2*10 499G>A (rs72554617) E167K
NAT2*11A 481C>T (rs1799929) L161L (synonymous) Rapid
NAT2*12A 803A>G (rs1208) d K268R Rapid
NAT2*12B 282C>T (rs1041983) 803A>G (rs1208) d Y94Y (synonymous) Rapid
K268R
NAT2*12C 481C>T (rs1799929) 803A>G (rs1208) d L161L (synonymous) Rapid
K268R
NAT2*12D 364G>A (rs4986996) 803G>A (rs1208)d D122N K268R Rapid
NAT2*13A 282C>T (rs1041983) Y94Y (synonymous) Rapid
NAT2*14A 191G>A (rs1801279) R64Q Slow
NAT2*14B 191G>A (rs1801279) 282C>T (rs1041983) R64Q Slow
Y94Y (synonymous)
NAT2*14C 191G>A (rs1801279) 341T>C (rs1801280) 481C>T (rs1799929) 803A>G (rs1208) d R64Q I114T L161L (synonymous) Slow
K268R
NAT2*14D 191G>A (rs1801279) 282C>T (rs1041983) 590G>A (rs1799930) R64Q Y94Y (synonymous) Slow
R197Q
NAT2*14E 191G>A (rs1801279) 803A>G (rs1208) d R64Q K268R Slow
NAT2*14F 191G>A (rs1801279) 341T>C (rs1801280) 803A>G (rs1208) d R64Q I114T K268R Slow
NAT2*14G 191G>A (rs1801279) 282C>T (rs1041983) 803A>G (rs1208) d R64Q Y94Y (synonymous) Slow
K268R
NAT2*14I 191G>A (rs1801279) 481C>T (rs1799929) R64Q L161L (synonymous)
803A>G (rs1208) d K268R
NAT2*17 434A>C (rs72554616) Q145P Slow
NAT2*18 845A>C (rs56054745) K282T Rapid
NAT2*19 190C>T (rs1805158) R64W Slow
a

A complete up to date listing as well as further information is maintained at the Consensus Human Arylamine N-Acetyltransferase Gene Nomenclature website at http://nat.mbg.duth.gr/ (accessed October 2020). Modified from [21,24].

b

Signature SNP for each haplotype cluster indicated in bold font. All positions use NAT2 reference sequences: NM_000015.2:c, NP_000006.2:p, and NC_000008.10, unless otherwise stated. Some SNP position information also added from dbSNP: (http://www.ncbi.nlm.nih.gov/projects/SNP/).

c

Multiple studies provide evidence that NAT2*6B and NAT2*7B represent ‘very’ slow alleles indicative of genetic heterogeneity in the slow acetylator phenotype. The phenotype of alleles possessing 857G>A (G286E) as well as nAT2*18 have been shown to be dependent on substrate [24,83].

d

803G>A Arg268Lys on dbSNP; however the NAT2*4 reference allele has allele A at position 803.