Table 2 CYP2B11 genetic polymorphisms and allele frequencies.

From: Pharmacogenomics of poor drug metabolism in Greyhounds: Cytochrome P450 (CYP) 2B11 genetic variation, breed distribution, and functional characterization

 

Genetic polymorphism

#1

#2

#3

#4

#5

#6

#7

#8

#9

Positiona

112817078

112828499

112832580

112832619

112832805

112832834

112832951

112833166

112833204

Reference allele

G

G

TCA

C

TG

G

A

G

G

Alternate allele

A

A

TCCA

T

CA

A

G

T

C

dbSNP (v.146) ID

rs21894687

rs852076551

rs850924485

Location

5′-enhancer

Exon 7

3′UTR

3′UTR

3′UTR

3′UTR

3′UTR

3′UTR

3′UTR

Protein

p.Glu322Glu

cDNA

c.-489_G/A

c.966_G/A

c.1913_TCA/TCCA

c.1952_C/T

c.2137_TG/CA

c.2166_G/A

c.2283_A/G

c.2498_G/T

c.2536_G/C

 

Allele frequencies (95% C.I.)

Greyhounds (N = 13)

0.50

0.50

0.50

0.19

0.50

0.50

0.50

1.0

0.50

(0.30–0.70)

(0.30–0.70)

(0.30–0.70)

(0.09–0.38)

(0.30–0.70)

(0.30–0.70)

(0.30–0.70)

(0.87–1.0)

(0.30–0.70)

Other breeds (N = 45)

0.24

0.34

0.20

0.03

0.18

0.18

0.18

0.86

0.18

(0.17–0.34)

(0.25–0.45)

(0.13–0.29)

(0.01–0.09)

(0.11–0.27)

(0.11–0.27)

(0.11–0.27)

(0.77–0.91)

(0.09–0.23)

  1. Genetic polymorphisms located in the CYP2B11 5′-enhancer (to ~2,000 bp upstream), exons 1–9, and 3′-UTR were identified by genomic PCR with Sanger sequencing (in 13 Greyhounds) or by analysis of publicly available whole genome sequence data by sampling one dog from each of 45 different breeds. Samples from Greyhound dogs were identified by their owners as dogs registered with the National Greyhound Association bred for racing. Shown are the locations of each polymorphism, predicted effect on the cDNA and protein, as well as the observed allele frequencies (95% confidence interval) in the Greyhounds and the dogs from the other breeds. Genotype data for each individual dog used to derive these allele frequencies are given in S1 Table. The genetic polymorphism labels used here (#1 to #9) correspond to the labels used in Fig. 4 and Table 3.
  2. aPosition in base pairs in the CanFam 3.1 chromosome 1 sequence for the first nucleotide of the polymorphism.