Table 1.
NAT2 Allele Frequency and Predicted Function
| NAT2* Allele | Variant | rs# | Global MAFa | African | Asian | European | Predicted Function |
|---|---|---|---|---|---|---|---|
| *4 | none | none | Standard/Wild type | ||||
| *5 | 341 T>C | rs1801280 | 0.43 | 0.67 | 0.03 | 0.55 | Reduced |
| *6 | 590 G>A | rs1799930 | 0.29 | 0.25 | 0.25 | 0.29 | Reduced |
| *7 | 857 G>A | rs1799931 | 0.03 | 0.03 | 0.16 | 0.025 | Reduced |
| *11 | 481 C>T | rs1799929 | 0.42 | 0.27 | 0.03 | 0.43 | Standardb |
| *12 | 803 A>G | rs1208 | 0.42 | 0.42 | 0.06 | 0.43 | Standardc |
| *13 | 282 C>T | rs1041983 | 0.33 | 0.43 | 0.43 | 0.32 | Standardb |
| *14 | 191 G>A | rs1801279 | 0.004 | 0.08 | 0 | 0.0004 | Reduced |
a
MAF: minor allele frequency.
b
rs1799929 and rs1041983 are synonymous mutations without an amino acid substitution and are considered standard functioning alleles.
c
rs1208 is a missense mutation conferring an amino acid substitution of Lysine (K) to Arginine (R). It is presently considered a standard functioning allele.