Table 1.
Common human NAT2 alleles (haplotypes)
| Allele (haplotype)a | Nucleotide Change(s)b | Amino Acid Change(s)c | Catalytic activityd |
|---|---|---|---|
| NAT2*4 | None | None | High |
| NAT2*5A | 341T>C; 481C>T | I114T | Low |
| NAT2*5B | 341T>C; 481C>T; 803A>G | I114T; K268R | Low |
| NAT2*5C | 341T>C; 803A>G | I114T; K268R | Low |
| NAT2*6A | 282C>T ; 590G>A | R197Q | Low |
| NAT2*6B | 590G>A | R197Q | Low |
| NAT2*7A | 857G>A | G286E | Low |
| NAT2*7B | 282C>T; 857G>A | G286E | Low |
| NAT2*12A | 803A>G | K268R | High |
| NAT2*12B | 282C>T; 803A>G | K268R | High |
| NAT2*12C | 481C>T; 803A>G | K268R | High |
| NAT2*13 | 282C>T | None | High |
| NAT2*14A | 191G>A | R64Q | Low |
| NAT2*14B | 191G>A; 282C>T | R64Q | Low |
a
Common NAT2 alleles (haplotypes) associated with low catalytic activityd and slow acetylator phenotype are bolded. Individuals homozygous for these alleles are slow acetylators.
b
Signature SNP for each allele cluster is bolded.
c
Amino acid substitutions that confer reduced NAT2 activities are underlined.