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Table 1 Intronic polymorphism of the cytochrome P450 genes and of NADPH cytochrome P450 reductase (POR)

From: Intronic polymorphisms of cytochromes P450

Gene

Allele

Genomic position*

Intronic position

Effect

Activity in vivo

References

CYP1A2

CYP1A2*7

3533G1 > A

IVS6 + 1G > A

Disruption of the splice donor site in intron 6

None

[2]

CYP2C19

CYP2C19*7

19294T > A

IVS5 + 2T > A

Disruption of the splice donor site in intron 5

None

[3]

CYP2D6

CYP2D6*4

1846G > A

IVS3 - 1G > A

Disruption of the splice acceptor site in intron 3

None

[4]

 

CYP2D6*11

883G > C

IVS1 - 1G > C

Disruption of the splice acceptor site in intron 1

None

[5]

 

CYP2D6*41, CYP2D6*69

2988G > A

IVS6 + 39G > A

Insertion of an alternative splice donor site in intron 6

Decreased

[6–8]

 

CYP2D6*44

2950G > C

IVS6 + 1G > C

Disruption of the splice donor site in intron 6

None

[9]

CYP3A5

CYP3A5*3

6986A > G

IVS3 - 237A > G

Insertion of an alternative splice acceptor site in intron 3

Decreased

[10]

 

CYP3A5*5

12952T > C

IVS5 + 2T > C

Disruption of the splice donor site in intron 5

None

[11]

CYP21A2

Common I2 splice variant**

655A/C > G

IVS2 - 13A/C > G

Insertion of an alternative splice acceptor site in intron 2

Decreased

[12]

 

CYP21A2*26

1779G > C

IVS7 + 1G > C

Disruption of the splice donor site in intron 7

None

[13]

 

CYP21A2*31

295A > G

IVS1 - 2A > G

Disruption of the splice acceptor site in intron 1

None

[14]

 

CYP21A2*39

387G > A

IVS2 + 1G > A

Disruption of the splice donor site in intron 2

None

[15]

 

CYP21A2*43

1780T > G

IVS7 + 2T > G

Disruption of the splice donor site in intron 7

None

[16]

 

CYP21A2*68

666A > G

IVS2 - 2A > G

Disruption of the splice acceptor site in intron 2

None

[17]

POR

POR*3

27615G > A

IVS6 + 1G > A

Disruption of the splice donor site in intron 6

Decreased

[18]

  1. * A in translational start codon ATG is denoted +1.
  2. ** The I2 splice variant is found in several different alleles