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Human NAT2 Alleles (Haplotypes) |
Last updated 18/04/2016
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Nucleotide Change(s) and rs Identifiersc |
Amino Acid Change(s) |
Phenotyped |
References |
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NAT2*4 |
Reference |
Reference |
Rapid |
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NAT2*5A |
341T>C (rs1801280) |
I114T L161L (synonymous) |
Slow |
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NAT2*5B |
341T>C (rs1801280) |
I114T K268R |
Slow |
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NAT2*5C |
341T>C (rs1801280) |
I114T |
Slow |
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NAT2*5D |
341T>C (rs1801280) |
I114T |
Slow |
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NAT2*5E |
341T>C (rs1801280) |
I114T |
Slow |
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NAT2*5F |
341T>C
(rs1801280) |
I114T V253V
(synonymous) K268R |
Slow |
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NAT2*5G |
282C>T (rs1041983) |
Y94Y
(synonymous) I114T K268R |
Slow |
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NAT2*5H |
341T>C
(rs1801280) |
I114T K268R |
Slow |
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NAT2*5I |
341T>C (rs1801280) |
I114T K268R |
Slow |
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NAT2*5Je |
282C>T (rs1041983) 590G>A (rs1799930) |
Y94Y
(synonymous) I114T |
Slow |
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NAT2*5K |
282C>T (rs1041983) |
Y94Y
(synonymous) I114T |
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NAT2*5KAf |
282C>T
(rs1041983) 341T>C
(rs1801280) 857G>A
(rs1799931) |
Y94Y
(synonymous) I114T G286E |
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NAT2*5L |
70T>A (rs45477599) 341T>C
(rs1801280) 481C>T (rs1799929) 803A>G (rs1208) |
L24I I114T K268R |
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NAT2*5M |
341T>C
(rs1801280) 481C>T (rs1799929) 803A>G (rs1208) 838G>A (rs56393504) |
I114T K268R V280M |
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NAT2*5N |
341T>C
(rs1801280) 472A>C (rs139351995) 481C>T (rs1799929) 803A>G (rs1208) |
I114T I158L L161L (synonymous) K268R |
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NAT2*5O |
203G>A (rs72466458) 341T>C
(rs1801280) 481C>T (rs1799929) 803A>G (rs1208) |
C68Y I114T K268R |
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NAT2*5P |
282C>T (rs1041983) 590G>A (rs1799930) 803A>G (rs1208) |
Y94Y
(synonymous) I114T T193M R197Q K268R |
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NAT2*5Qf |
341T>C (rs1801280) 590G>A (rs1799930) 803A>G (rs1208) |
I114T R197Q K268R |
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NAT2*5Rf |
282C>T
(rs1041983) 341T>C (rs1801280) 590G>A (rs1799930) 803A>G (rs1208) |
Y94Y
(synonymous) I114T R197Q K268R |
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NAT2*5Sf |
341T>C (rs1801280) 857G>A (rs1799931) |
I114T G286E |
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NAT2*5Tf |
282C>T (rs1041983) 341T>C (rs1801280) 803A>G (rs1208) |
Y94Y
(synonymous) I114T K268R |
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NAT2*5TAf |
282C>T
(rs1041983) 341T>C
(rs1801280) 803A>G
(rs1208) 857G>A (rs1799931) |
Y94Y
(synonymous) I114T K268R G286E |
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NAT2*5Uf |
282C>T (rs1041983) 341T>C (rs1801280) 481C>T (rs1799929) 590G>A (rs1799930) 803A>G (rs1208) |
Y94Y
(synonymous) I114T L161L
(synonymous) R197Q K268R |
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NAT2*5Vf |
282C>T (rs1041983) 341T>C (rs1801280) 481C>T (rs1799929) |
Y94Y
(synonymous) I114T L161L
(synonymous) |
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NAT2*5VAf |
282C>T
(rs1041983) 341T>C
(rs1801280) 481C>T
(rs1799929) 857G>A (rs1799931) |
Y94Y
(synonymous) I114T L161L
(synonymous) G286E |
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NAT2*5Wf |
341T>C
(rs1801280) 354T>C
(rs146405047) 481C>T
(rs1799929) 803A>G
(rs1208) |
I114T N118N
(synonymous) L161L
(synonymous) K268R |
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NAT2*5Xf |
341T>C
(rs1801280) 403C>G
(rs12720065) 481C>T
(rs1799929) 803A>G (rs1208) |
I114T L135V L161L
(synonymous) K268R |
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NAT2*5Yf |
341T>C
(rs1801280) 481C>T
(rs1799929) 622T>C
(rs56387565) 803A>G
(rs1208) |
I114T L161L
(synonymous) Y208H K268R |
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NAT2*5Zf |
191G>A
(rs1801279) 341T>C
(rs1801280) 481C>T
(rs1799929) |
R64Q I114T L161L (synonymous) |
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NAT2*6A |
282C>T (rs1041983) |
Y94Y
(synonymous) R197Q |
Slow |
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NAT2*6B |
590G>A (rs1799930) |
R197Q |
Slow |
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NAT2*6C |
282C>T (rs1041983) |
Y94Y
(synonymous) R197Q |
Slow |
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NAT2*6D |
111T>C (rs72554615) |
F37F
(synonymous) Y94Y
(synonymous) R197Q |
Slow |
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NAT2*6E |
481C>T (rs1799929) |
L161L (synonymous) R197Q |
Slow |
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NAT2*6F |
590G>A (rs1799930) 803A>G (rs1208) |
R197Q |
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NAT2*6G |
282C>T (rs1041983) 518A>G 590G>A (rs1799930) |
Y94Y
(synonymous) K173R R197Q |
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NAT2*6H |
282C>T (rs1041983) 590G>A (rs1799930) 766A>G (rs55700793) |
Y94Y
(synonymous) R197Q K256E |
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NAT2*6I |
282C>T (rs1041983) 590G>A (rs1799930) 838G>A (rs56393504) 857G>A (rs1799931) |
Y94Y
(synonymous) R197Q V280M G286E |
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NAT2*6J |
282C>T (rs1041983) 590G>A (rs1799930) 857G>A (rs1799931) |
Y94Y
(synonymous) R197Q G286E |
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NAT2*6K |
282C>T (rs1041983) 590G>A
(rs1799930) 638C>T (rs138707146) |
Y94Y
(synonymous) R197Q P213L |
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NAT2*6L |
282C>T (rs1041983) 345C>T (rs45532639) 590G>A
(rs1799930) |
Y94Y
(synonymous) D115D(synonymous) R197Q |
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NAT2*6M |
152G>T (rs72466457) 282C>T (rs1041983) 590G>A
(rs1799930) |
G51V Y94Y
(synonymous) R197Q |
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NAT2*6N |
282C>T (rs1041983) 481C>T (rs1799929) 590G>A
(rs1799930) |
Y94Y
(synonymous) L161L
(synonymous) R197Q |
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NAT2*6Of |
282C>T (rs1041983) 590G>A
(rs1799930) 838G>A (rs56393504) |
Y94Y
(synonymous) R197Q V280M |
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NAT2*6Pf |
403C>G (rs12720065) 590G>A
(rs1799930) |
L135V R197Q |
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NAT2*6Qf |
282C>T (rs1041983) 308C>T 590G>A
(rs1799930) |
Y94Y
(synonymous) T103I R197Q |
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NAT2*6Rf |
282C>T (rs1041983) 481C>T (rs1799929) 590G>A
(rs1799930) 803A>G (rs1208) |
Y94Y
(synonymous) L161L
(synonymous) R197Q K268R |
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NAT2*6Sf |
590G>A
(rs1799930) 857G>A (rs1799931) |
R197Q G286E |
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NAT2*6Tf |
481C>T (rs1799929) 590G>A
(rs1799930) 857G>A (rs1799931) |
L161L
(synonymous) R197Q G286E |
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NAT2*6Uf |
282C>T
(rs1041983) 590G>A
(rs1799930) 579G>T
(rs144176822) |
Y94Y
(synonymous) R197Q T193T
(synonymous) |
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NAT2*6Vf |
403C>G (rs12720065) 590G>A (rs1799930) 838G>A (rs56393504) |
L135V R197Q V280M |
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NAT2*7A |
857G>A (rs1799931) |
G286E |
Slow; Substrate
dependent? |
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NAT2*7B |
282C>T (rs1041983) |
Y94Y
(synonymous) G286E |
Slow; Substrate
dependent? |
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NAT2*7C |
282C>T (rs1041983) 857G>A (rs1799931) |
Y94Y
(synonymous) K268R G286E |
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NAT2*7D |
191G>A (rs1801279) |
R64Q Y94Y
(synonymous) G286E |
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NAT2*7Ef |
282C>T (rs1041983) 481C>T (rs1799929) 857G>A
(rs1799931) |
Y94Y
(synonymous) L161L
(synonymous) G286E |
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NAT2*7Ff |
282C>T (rs1041983) 481C>T (rs1799929) 803A>G (rs1208) 857G>A (rs1799931) |
Y94Y
(synonymous) L161L
(synonymous) K268R G286E |
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NAT2*7Gf |
226T>G 282C>T (rs1041983) 857G>A
(rs1799931) |
Y76D Y94Y
(synonymous) G286E |
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NAT2*10 |
499G>A (rs72554617) |
E167K |
Slow; Substrate
dependent? |
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NAT2*11A |
481C>T (rs1799929) |
L161L (synonymous) |
Rapid |
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NAT2*11B |
481C>T (rs1799929) |
L161L (synonymous) S287 Frameshift |
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NAT2*12A |
803A>G (rs1208) |
K268R |
Rapid |
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NAT2*12B |
282C>T (rs1041983) |
Y94Y
(synonymous) K268R |
Rapid |
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NAT2*12C |
481C>T (rs1799929) |
L161L (synonymous) K268R |
Rapid |
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NAT2*12D |
364G>A (rs4986996) |
D122N |
Slow |
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NAT2*12E |
282C>T (rs1041983) 803A>G
(rs1208) |
Y94Y
(synonymous) T193M K268R |
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NAT2*12F |
622T>C (rs56387565) 803A>G (rs1208) |
Y208H K268R |
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NAT2*12G |
609G>T (rs45618543) 803A>G (rs1208) |
E203D K268R |
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NAT2*12H |
403C>G (rs12720065) 803A>G (rs1208) |
L135V K268R |
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NAT2*12I |
228C>T (rs72466459) 803A>G (rs1208) |
Y76Y
(synonymous) K268R |
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NAT2*12J |
29T>C (rs72466456) 803A>G (rs1208) |
I10T K268R |
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NAT2*12Kf |
472A>C (rs139351995) 803A>G (rs1208) |
I158L K268R |
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NAT2*12Lf |
665T>G 803A>G (rs1208) |
F222C K268R |
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NAT2*12Mf |
282C>T (rs1041983) 481C>T (rs1799929) 803A>G
(rs1208) |
Y94Y
(synonymous) L161L
(synonymous) K268R |
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NAT2*12Nf |
121A>T (rs149283608) 803A>G (rs1208) |
N41Y K268R |
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NAT2*12Of |
29T>C
(rs72466456) 609G>T
(rs45618543) 803A>G
(rs1208) |
I10T E203D K268R |
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NAT2*12Pf |
472A>C (rs139351995) 481C>T (rs1799929) 803A>G (rs1208) |
I158L L161L (synonymous) K268R |
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NAT2*13A |
282C>T
(rs1041983) |
Y94Y
(synonymous) |
Rapid |
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NAT2*13B |
282C>T
(rs1041983) 578C>T (rs79050330) |
Y94Y
(synonymous) T193M |
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NAT2*13Cf |
282C>T (rs1041983) 665T>G |
Y94Y
(synonymous) F222C |
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NAT2*13Df |
282C>T (rs1041983) 766A>G (rs55700793) |
Y94Y
(synonymous) K256E |
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NAT2*13Ef |
282C>T (rs1041983) 641C>T |
Y94Y
(synonymous) T214I |
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NAT2*13Ff |
282C>T (rs1041983) 838G>A (rs56393504) |
Y94Y
(synonymous) V280M |
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NAT2*13Gf |
282C>T (rs1041983) 472A>C (rs139351995) |
Y94Y
(synonymous) I158L |
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NAT2*14A |
191G>A (rs1801279) |
R64Q |
Slow |
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NAT2*14B |
191G>A (rs1801279) |
R64Q Y94Y
(synonymous) |
Slow |
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NAT2*14C |
191G>A (rs1801279) |
R64Q K268R |
Slow |
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NAT2*14D |
191G>A (rs1801279) |
R64Q R197Q |
Slow |
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NAT2*14E |
191G>A (rs1801279) |
R64Q |
Slow |
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NAT2*14F |
191G>A (rs1801279) |
R64Q |
Slow |
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NAT2*14G |
191G>A (rs1801279) |
R64Q K268R |
Slow |
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NAT2*14H |
191G>A
(rs1801279) 683C>T (rs45518335) |
R64Q P228L |
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NAT2*14I |
191G>A (rs1801279) 803A>G (rs1208) |
R64Q K268R |
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NAT2*14Jf |
191G>A (rs1801279) 282C>T (rs1041983) 633G>A |
R64Q Y94Y
(synonymous) T211T
(synonymous) |
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NAT2*14Kf |
191G>A (rs1801279) 282C>T (rs1041983) 838G>A (rs56393504) |
R64Q Y94Y (synonymous) V280M |
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NAT2*14Lf |
7A>G (rs200893121) 191G>A (rs1801279) 282C>T (rs1041983) |
I3V R64Q Y94Y (synonymous) |
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NAT2*17 |
434A>C (rs72554616) |
Q145P |
Slow |
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NAT2*18 |
845A>C (rs56054745) |
K282T |
Rapid |
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NAT2*19 |
190C>T (rs1805158) |
R64W |
Slow |
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NAT2*20 |
600A>G (rs72466461) |
E200E (synonymous) |
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NAT2*21 |
458C>T (rs72466460) |
T153I |
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NAT2*22f |
609G>T (rs45618543) |
E203D |
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NAT2*23f |
70T>A (rs45477599) |
L24I |
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NAT2*24f |
403C>G (rs12720065) |
L135V |
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NAT2*25f |
665T>G |
F222C |
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NAT2*26f |
809T>C |
I270T |
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NAT2*27f |
589C>T |
R197Stop |
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(a) Human
(b) Reference gene sequence (NAT2*4) is published in Genbank
Assession Number X14672. NAT2*4 has historically been
designated "wildtype". Since it is the most common occurring allele
in some but not all ethnic groups, the designation of "wildtype"
allele is somewhat arbitrary and is dependent upon the ethnicity of the
population studied.
(c) Signature SNP for each cluster
is shown in red font. SNPs should be identified by designating "A" of the
(d) Phenotype assignments
reflect most current research but are not necessarily a consensus of all
research papers. Evidence also exists for heterogeneity within the “slow”
acetylator phenotype. For comprehensive reviews, see references [52-56]. Although additional SNPs have been identified
outside the open reading frame (e.g., see refs [31,32,57]), they will not be named until a functional
effect is observed.
(e) The SNPs on
(f) Haplotypes predicted from
genotypes by computational PHASE analysis.
For new submissions or enquiries, please contact Dr. Sotiria
Boukouvala (sboukouv@mbg.duth.gr).
[1]
Deguchi, T.
Sequences and expression of alleles of polymorphic arylamine
N-acetyltransferase of human liver. J.
Biol. Chem. 267:
18140-18147, 1992.
[2]
Blum, M.,
Demierre, A., Grant, D.M., Heim, M. and Meyer, U.A. Molecular mechanism of
slow acetylation of drugs and carcinogens in humans. Proc. Natl. Acad. Sci. USA 88: 5237-5241, 1991.
[3]
Vatsis, K.P.,
Martell, K.J. and Weber, W.W. Diverse point mutations in the human gene for
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6333-6337, 1991.
[4]
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[5]
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and Deguchi. T. Structure and restriction fragment length polymorphism of
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[6]
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[7]
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[8]
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and Sim, E. N-Acetyltransferase polymorphism: Comparison of phenotype and
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[9]
Hein, D.W., Ferguson, R.J.,
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wild-type, mutant, and chimeric
[10]
Hein, D.W., Doll, M.A.,
Rustan, T.D. and Ferguson, R.J. Metabolic activation of N-hydroxyarylamines
and N-hydroxyarylamides by 16 recombinant human
[11]
Hickman, D., Palamanda, J.R.,
Unadkat, J.D. and Sim, E. Enzyme kinetic properties of human recombinant
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[12]
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Doll, M.A. and Hein, D.W. Functional characterization of human
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[13]
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C.K. and Hein, D.W. Phenotypic and genotypic characterization of N-acetylation.
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[14]
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2 genetic polymorphism: effects of carcinogen and haplotype on urinary bladder
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[15]
Hein, D.W., Fretland, A.J.
and Doll, M.A. Effects of single nucleotide polymorphisms in human
N-acetyltransferase 2 on metabolic activation (O-acetylation) of heterocyclic
amine carcinogens. Int. J. Cancer 119: 1208-1211, 2006.
[16]
Zang, Y., Zhao, S., Doll, M.A.,
States, J.C. and Hein, D.W. Functional characterization of the A411T
(L137F) and G364A (D122N) genetic polymorphisms in human N-acetyltransferase 2.
Pharmacogenet. Genomics 17: 37-45, 2007.
[17]
Zang, Y., Doll, M.A., Zhao,
S., States, J.C. and Hein, D.W. Functional characterization of single
nucleotide polymorphisms and haplotypes of human N-acetyltransferase 2. Carcinogenesis 28: 1665-1671, 2007.
[18]
Hickman, D.,
Risch, A., Camilleri, J.P. and Sim, E. Genotyping human polymorphic
arylamine N-acetyltransferase: identification of new slow allotypic variants. Pharmacogenetics 2: 217-226, 1992.
[19]
Lin, J.J.,
Han, C.Y., Lin B.K., and Hardy, S. Slow acetylator mutations in the human
polymorphic N-acetyltransferase gene in 786 Asians, Blacks, Hispanics, and Whites:
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[20]
Abe, M.,
Deguchi, T. and Suzuki, T. The structure and
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[21]
Ferguson,
R.J., Doll, M.A., Rustan, T.D., Gray, K. and Hein, D.W. Cloning, expression,
and functional characterization of two mutant (
[22]
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Drakoulis, N., Brockmoller, J., Mauer, A., Sperling, K. and Roots, I.
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