Skip to main content
. Author manuscript; available in PMC: 2010 Apr 1.
Published in final edited form as: Expert Opin Drug Metab Toxicol. 2009 Apr;5(4):353–366. doi: 10.1517/17425250902877698

Table 2.

SNPs in human NAT2 coding region

SNPa rs identifierb SNP500 Cancer IDc Amino acid change NAT2 allele/haplotype Functional effectd
34T>C Y12H
70T>A L24I NAT2*5L
111T>C NAT2-20 F37F NAT2*6D Synonymous
190C>T 1805158 NAT2-03 R64W NAT2*19 Decrease
191G>A 1801279 NAT2-04 R64Q NAT1*14 cluster and others Decrease
282C>T 1041983 NAT2-05 Y94Y NAT2*13 cluster and others Synonymous
341C>T 1801280 NAT2-06 I114T NAT2*5 cluster Decrease
345C>T D115D NAT2*6L Synonymous
364G>A 4986996 NAT2-09 D112N NAT2*12D Decrease
403C>G 12720065 NAT2-19 L135V NAT2*12H
411A>T 4986997 NAT2-10 L137F NAT2*5I
434A>C Q145P NAT2*17 Decrease
472A>C I158L
481C>T 1799929 NAT2-07 L161L Many Synonymous
499G>A E167K NAT2*10
518A>G K173R
578C>T T193M NAT2*12E; *13B
589C>T R197X
590G>A 1799930 NAT2-08 R197Q NAT2*6 cluster and others Decrease
609G>T E203D NAT2*12G
622T>C Y208H NAT2*12F
641C>T T214I
683C>T P228L NAT2*14H
759C>T 56011192 NAT2-17 V253V NAT2*5F Synonymous
766A>G K256E NAT2*6H
803A>G 1208 NAT2-01 K268R NAT2*12 cluster and others No effect
809T>C I270T
838G>A V280M NAT2*5M; *6I; *6K
845A>C 56054745 NAT2-18 K282T NAT2*18 Substrate-dependent decrease
857G>A 1799931 NAT2-02 G286E NAT2*7 cluster Substrate-dependent decrease
859Del S287frameshift NAT2*11B
a

Reference gene sequence published in Genbank Assession Number X14672. Most common SNPs are bolded. Adapted from http://N-acetyltransferasenomenclature.louisville.edu and [39,40].

b

Not all SNPs have been designated.

c

Accessed from http://snp500cancer.nci.nih.gov/snplist.cfm?gene_id=NAT2&mode=valid. This SNP nomenclature is distinct from the NAT2 allele (haplotype) nomenclature.

d

SNPs are non-synonymous unless otherwise indicated. Only functional effects supported with experimental data are provided.