Table 1.
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 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].
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/).
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].
803G>A Arg268Lys on dbSNP; however the NAT2*4 reference allele has allele A at position 803.