Skip to main content

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.