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Table S4 N-acetyltransferase 2 single nucleotide polymorphism (SNP) frequencies

From: Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

NC_000008.9

mRNA

position

SNP

Effect

dbSNP

Hausa

(20)

Yoruba

(20)

Ibo

(19)

Luo

(16)

Maasai

(12)

San

(40)

Total

(127)

8950

191

G > A

R64Q (*14)

rs1801279

0.03

0.08

0.13

0.20

0.08

0.09

0.10

9041

282

C > T

Y94Y

rs1041983

0.4

0.44

0.55

0.44

0.38

0.29

0.39

9100

341

T > C

I114T (*5)

rs1801280

0.33

0.14

0.34

0.27

0.5

0.2

0.27

9162

403

C > G

L135V

nrs

0

0.03

0

0.03

0

0

< 0.01

9231

472

A > C

I158L

Novel

0

0

0

0.03

0

0

< 0.01

9240

481

C > T

L161L

rs1799929

0.25

0.14

0.34

0.27

0.46

0.14

0.24

9348

589

C > T

R197X

Novel

0

0

0

0

0

0.01

< 0.01

9349

590

G > A

R197Q (*6)

rs1799930

0.32

0.33

0.29

0.30

0.25

0.20

0.27

9400

641

C > T

T214I

Novel

0

0

0

0.03

0

0

< 0.01

9442

683

C > T

P228L

nrs

0

0

0

0.03

0

0

< 0.01

9525

766

A > G

K256E

nrs

0

0

0

0

0

0.03

0.01

9562

803

A > G

K268R

rs1208

0.37

0.39

0.40

0.44

0.54

0.43

0.42

9568

809

T > C

I270T

Novel

0

0

0

0

0

0.13

0.04

9597

838

G > A

V280M

nrs

0.06

0.03

0.05

0.03

0

0

0.02

9616

857

G > A

G286E (*7)

rs1799931

0.03

0.03

0.03

0.03

0.04

0.01

0.02

  1. mRNA position = relative to A of ATG start codon; X = stop codon; (*) = described alleles carrying that particular mutation; nrs = rs number not yet assigned. Number of individual samples studied per population is indicated in bold in parenthesis.