Table 2.
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 |
Reference gene sequence published in Genbank Assession Number X14672. Most common SNPs are bolded. Adapted from http://N-acetyltransferasenomenclature.louisville.edu and [39,40].
Not all SNPs have been designated.
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.
SNPs are non-synonymous unless otherwise indicated. Only functional effects supported with experimental data are provided.