Worldwide distribution of NAT2 diversity: Implications for NAT2 evolutionary history

BMC Genomic Data

Table 1 SNP and haplotype frequencies in the Mandenka sample.

Nucleotide Change^a	G191A	C282T	T341C	C345T^d	C403G^c	C481T	G590A	G609T^c	C638T^d	A803G	G838A^c	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
Haplotype^b													Haplotype Frequency
NAT24* ^e	G	C	T	C	C	C	G	G	C	A	G	G	0.0928
NAT25A*	.	.	C	.	.	T	.	.	.	.	.	.	0.0103
NAT25B*	.	.	C	.	.	T	.	.	.	G	.	.	0.3300
NAT25C*	.	.	C	.	.	.	.	.	.	G	.	.	0.0155
NAT26A*	.	T	.	.	.	.	A	.	.	.	.	.	0.1289
NAT27B*	.	T	.	.	.	.	.	.	.	.	.	A	0.0670
NAT212A*	.	.	.	.	.	.	.	.	.	G	.	.	0.1289
NAT213*	.	T	.	.	.	.	.	.	.	.	.	.	0.0515
NAT214A*	A	.	.	.	.	.	.	.	.	.	.	.	0.0876
NAT2*14B	A	T	.	.	.	.	.	.	.	.	.	.	0.0155
NAT212g* ^c	.	.	.	.	.	.	.	T	.	G	.	.	0.0052
NAT26J* ^d	.	T	.	.	.	.	A	.	.	.	.	A	0.0052
NAT212H* ^c	.	.	.	.	G	.	.	.	.	G	.	.	0.0206
NAT25M* ^d	.	.	C	.	.	T	.	.	.	G	A	.	0.0052
NAT26K* ^d	.	T	.	.	.	.	A	.	T	.	.	.	0.0103
NAT26L* ^d	.	T	.	T	.	.	A	.	.	.	.	.	0.0258
2N ^f													194

^a Polymorphic sites were numbered considering +1 as the A of the translation start codon in the cDNA sequence (GenBank CR407631)
^bNAT2 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
^eNAT2*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

ISSN: 2730-6844