Table 1

SNP and haplotype frequencies in the Mandenka sample.
Nucleotide Changea
 G191A
 C282T
 T341C
 C345Td
 C403Gc
 C481T
 G590A
 G609Tc
 C638Td
 A803G
 G838Ac
 G857A
Amino Acid Change
 R64Q
 None
 I114T
 None
 L135V
 None
 R197Q
 E203D
 P213L
 K268R
 V280M
 G286E
SNP Frequency
 0.1031
 0.3041
 0.3608
 0.0258
 0.0206
 0.3454
 0.1701
 0.0051
 0.0103
 0.5052
 0.0051
 0.0722
Haplotypeb











Haplotype Frequency
NAT2*4e
 G
 C
 T
 C
 C
 C
 G
 G
 C
 A
 G
 G
 0.0928
NAT2*5A
 .
 .
 C
 .
 .
 T
 .
 .
 .
 .
 .
 .
 0.0103
NAT2*5B
 .
 .
 C
 .
 .
 T
 .
 .
 .
 G
 .
 .
 0.3300
NAT2*5C
 .
 .
 C
 .
 .
 .
 .
 .
 .
 G
 .
 .
 0.0155
NAT2*6A
 .
 T
 .
 .
 .
 .
 A
 .
 .
 .
 .
 .
 0.1289
NAT2*7B
 .
 T
 .
 .
 .
 .
 .
 .
 .
 .
 .
 A
 0.0670
NAT2*12A
 .
 .
 .
 .
 .
 .
 .
 .
 .
 G
 .
 .
 0.1289
NAT2*13
 .
 T
 .
 .
 .
 .
 .
 .
 .
 .
 .
 .
 0.0515
NAT2*14A
 A
 .
 .
 .
 .
 .
 .
 .
 .
 .
 .
 .
 0.0876
NAT2*14B
 A
 T
 .
 .
 .
 .
 .
 .
 .
 .
 .
 .
 0.0155
NAT2*12gc
 .
 .
 .
 .
 .
 .
 .
 T
 .
 G
 .
 .
 0.0052
NAT2*6Jd
 .
 T
 .
 .
 .
 .
 A
 .
 .
 .
 .
 A
 0.0052
NAT2*12Hc
 .
 .
 .
 .
 G
 .
 .
 .
 .
 G
 .
 .
 0.0206
NAT2*5Md
 .
 .
 C
 .
 .
 T
 .
 .
 .
 G
 A
 .
 0.0052
NAT2*6Kd
 .
 T
 .
 .
 .
 .
 A
 .
 T
 .
 .
 .
 0.0103
NAT2*6Ld
 .
 T
 .
 T
 .
 .
 A
 .
 .
 .
 .
 .
 0.0258
2Nf











194

a Polymorphic sites were numbered considering +1 as the A of the translation start codon in the cDNA sequence (GenBank CR407631)

b NAT2 haplotypes were named in accordance with the consensus gene nomenclature of human NAT2 alleles [65]

c These SNPs/haplotypes have been recently described in Patin et al. [10]

d Newly reported SNPs/haplotypes in the present study

e NAT2*4 is the reference allele that was shown to be the ancestral haplotype through outgroup comparisons with the chimpanzee and rhesus monkey sequences

f Total number of chromosomes in the Mandenka sample

Sabbagh et al. BMC Genetics 2008 9:21   doi:10.1186/1471-2156-9-21