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

Open Data