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Table 3 NAT2 haplotypea frequencies in samples of the worldwide genotyping surveyb.

From: Worldwide distribution of NAT2 diversity: Implications for NAT2 evolutionary history

 

NAT2 Haplotypee

 

*4

*5A

*5B

*5C

*5D

*5E

*5M

*6A

*6B

*6C

*7A

*7B

*11A

*12A

*12B

*12C

*13

*13B

*14A

*14B

*6J f

Global (2Ng)

SNP positionc (ancestral stated)

   191 (G)

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

A

A

.

 

   282 (C)

.

.

.

.

.

.

T

T

.

T

.

T

.

.

T

.

T

T

.

T

T

 

   341 (T)

.

C

C

C

C

C

C

.

.

.

.

.

.

.

.

.

.

.

.

.

.

 

   481 (C)

.

T

T

.

.

.

.

.

.

.

.

.

T

.

.

T

.

T

.

.

.

 

   590 (G)

.

.

.

.

.

A

.

A

A

A

.

.

.

.

.

.

.

.

.

.

A

 

   803 (A)

.

.

G

G

.

.

.

.

.

G

.

.

.

G

G

G

.

.

.

.

.

 

   857 (G)

.

.

.

.

.

.

.

.

.

.

A

A

.

.

.

.

.

.

.

.

A

 

Population codeh

   1

27

1

47

17

0

0

0

34

4

0

0

0

0

34

7

1

13

0

6

11

0

202

   2

10

1

37

3

0

0

1

16

0

0

0

2

0

9

2

0

6

0

3

10

0

100

   3

8

0

4

0

0

0

0

11

0

0

0

0

0

39

1

0

13

0

0

4

0

80

   4

4

0

13

5

0

0

0

8

0

0

0

0

0

19

3

0

6

0

0

2

0

60

   6

18

2

65

3

0

0

0

32

0

0

0

13

0

30

0

0

10

0

17

3

1

194

   7

13

0

22

8

0

0

0

32

5

0

2

1

0

7

1

0

4

0

2

3

0

100

   8

3

0

19

0

0

0

0

17

0

0

0

1

0

7

0

0

0

0

1

0

0

48

   9

13

0

45

0

0

0

0

22

0

0

0

3

0

4

0

0

1

0

0

0

0

88

   10

133

1

242

0

0

0

0

127

2

0

0

3

0

6

0

0

0

0

2

0

0

516

   11

20

1

52

1

0

0

0

24

0

0

0

0

0

0

0

0

0

0

0

0

0

98

   12

22

6

54

2

0

0

0

30

0

0

0

1

0

0

0

0

5

0

0

0

0

120

   14

44

8

104

6

0

0

0

54

1

0

0

5

0

1

0

0

1

0

0

0

0

224

   15

187

20

318

17

0

0

0

206

0

0

0

15

0

3

0

0

7

0

0

1

0

774

   17

11

6

50

3

0

0

0

28

0

0

0

2

0

0

0

0

0

0

0

0

0

100

   18

23

3

42

0

0

0

0

15

0

0

0

13

0

0

0

0

0

0

0

0

0

96

   19

383

70

647

68

0

0

0

470

0

0

0

22

0

0

0

0

26

0

0

2

0

1688

   21

109

26

164

30

0

0

0

149

0

0

0

17

0

1

0

0

0

0

0

0

0

496

   23

9

0

41

0

0

0

0

29

0

0

0

1

0

0

0

0

0

0

0

0

0

80

   25

134

12

213

17

0

0

0

184

0

0

0

17

0

3

0

0

0

0

0

0

0

580

   26

140

8

216

29

0

0

0

185

0

0

0

27

0

1

0

0

0

0

0

0

0

606

   27

13

1

29

4

0

0

0

43

0

1

0

6

0

3

0

0

0

0

0

0

0

100

   28

31

0

23

3

0

0

0

30

0

0

0

12

0

1

0

0

0

0

0

0

0

100

   30

132

0

4

0

1

0

0

46

0

0

0

38

0

0

0

0

3

0

0

0

0

224

   32

46

0

6

0

0

0

0

22

0

0

0

13

0

0

0

0

1

0

0

0

0

88

   33

208

0

1

0

0

1

0

55

0

0

0

22

0

0

0

0

1

0

0

0

0

288

   36

353

1

5

0

1

0

0

126

3

0

6

70

0

4

0

1

6

0

0

0

0

576

   38

26

0

10

0

0

0

0

34

0

0

0

17

0

0

0

0

1

0

0

0

0

88

   41

114

7

86

5

0

0

0

46

1

1

0

0

0

8

0

2

3

0

1

0

0

274

Global

2234

174

2559

221

2

1

1

2075

16

2

8

321

0

180

14

4

107

0

32

36

1

7988

  1. aNAT2 haplotypes were named in accordance with the consensus gene nomenclature of human NAT2 alleles [65]
  2. b Only the 28 samples with no missing data (i.e., with genotype data available for the seven common SNPs in NAT2) were considered here
  3. c Polymorphic sites were numbered considering +1 as the A of the translation start codon in the cDNA sequence (GenBank CR407631)
  4. d The ancestral state of each SNP was deduced from both the chimpanzee and rhesus monkey sequences, and is represented here as a dot
  5. e Nucleotide substitutions shown in bold have a functional consequence on enzyme activity. Bold-faced haplotypes are 'slow alleles' associated with as decreased acetylation capacity; the others display an enzymatic activity comparable to the reference 'rapid' allele NAT2*4
  6. fNAT2*6J is a newly described allele found in the Mandenka sample in the present study (see Table 1). It was predicted to be a 'slow allele' since it contains two inactivating mutations
  7. g Total number of chromosomes
  8. h Samples are numbered according to their population code [see Additional file 1]: (1) 101 Tswana, (2) 50 Ateke Bantus, (3) 40 Bakola Pygmies, (4) 30 Baka Pygmies, (6) 97 Mandenka, (7) 50 Dogons, (8) 24 Somali, (9) 44 Moroccans, (10) 258 Spanish, (11) 49 Sardinians, (12) 60 French, (14) 112 UK Caucasians, (15) 387 US Caucasians, (17) 50 Swedes, (18) 48 Saami, (19) 844 Germans, (21) 248 Polish, (23) 40 Ashkenazi Jews, (25) 290 Russians, (26) 303 Turks, (27) 50 Gujarati, (28) 50 Turkmen, (30) 112 Han Chinese, (32) 44 Chinese, (33) 144 Japanese, (36) 288 Koreans, (38) 44 Thai, (41) 137 Nicaraguans.