CYP3A4 allele nomenclature 

Allele

Protein

Nucleotide changes    

Trivial name

Effect

Enzyme activity

References

cDNA

Gene

In vivo

In vitro

CYP3A4*1A

CYP3A4.1

None

 None

Wild-type

 

Normal

Normal

Gonzalez et al, 1988

CYP3A4*1B

CYP3A4.1

 

-392A>G 

CYP3A4-V

 

Rebbeck et al, 1998
Westlind et al, 1999

CYP3A4*1C

CYP3A4.1

 

-444T>G

 

 

 

 

Kuehl el al, 2001

CYP3A4*1D

CYP3A4.1

 

-62C>A

 

 

 

 

Kuehl el al, 2001

CYP3A4*1E

CYP3A4.1

 

-369T>A

 

 

 

 

Hamzeiy et al, 2002

CYP3A4*1F

CYP3A4.1

 

-747C>G

 

 

 

 

Hamzeiy et al, 2002

CYP3A4*1G

CYP3A4.1

 

20230G>A

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*1H

CYP3A4.1

 

20230G>A; 26206C>A

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*1J

CYP3A4.1

 

6077A>G

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*1K

CYP3A4.1

 

-655A>G

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*1L

CYP3A4.1

 

-630A>G

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*1M

CYP3A4.1

 

-156C>A

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*1N

CYP3A4.1

 

14200T>G

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*1P

CYP3A4.1

 

15727G>A

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*1Q

CYP3A4.1

 

15809T>C

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*1R

CYP3A4.1

 

16775A>G

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*1S

CYP3A4.1

 

17815_17816delAT

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*1T

CYP3A4.1

 

26013T>C

 

 

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*2

CYP3A4.2

664T>C

15713T>C

 

S222P

 

 

Sata et al, 2000

CYP3A4*3

CYP3A4.3

1334T>C

23171T>C

 

M445T

 

 

Sata et al, 2000

CYP3A4*4

CYP3A4.4

352A>G

13871A>G

 

I118V

 

 

Hsieh et al, 2001

CYP3A4*5

CYP3A4.5

653C>G

15702C>G

 

P218R

 

 

Hsieh et al, 2001

CYP3A4*6

 

830_831insA

17661_176622insA

 

277Frameshift

 

 

Hsieh et al, 2001

CYP3A4*7

CYP3A4.7

167G>A

6004G>A 

 

G56D

 

 

Eiselt et al, 2001

CYP3A4*8

CYP3A4.8

389G>A

13908G>A

 

R130Q

 

Decr

Eiselt et al, 2001

CYP3A4*9

CYP3A4.9

508G>A

14292G>A 

 

V170I

 

 

Eiselt et al, 2001

CYP3A4*10

CYP3A4.10

520G>C

14304G>C

 

D174H

 

 

Eiselt et al, 2001

CYP3A4*11

CYP3A4.11

1088C>T

21867C>T

 

T363M

 

Decr

Eiselt et al, 2001
Murayama et al., 2002

CYP3A4*12

CYP3A4.12

1117C>T

21896C>T

 

L373F

 

Decr?

Eiselt et al, 2001

CYP3A4*13

CYP3A4.13

1247C>T

22026C>T

 

P416L

 

Decr

Eiselt et al, 2001

CYP3A4*14

CYP3A4.14

44T>C

44 T>C

 

L15P

 

 

Lamba et al, 2002

CYP3A4*15A

CYP3A4.15

485G>A

14269G>A

 

R162Q

 

 

Lamba et al, 2002

CYP3A4*15B

CYP3A4.15

485G>A

-845_-844insATGGAGTGA;
-392A>G;
14269G>A

 

R162Q

 

 

Hamzeiy et al, 2002

CYP3A4*16A

CYP3A4.16

554C>G

15603C>G

 

T185S

 

Decr

Lamba et al, 2002
Murayama et al., 2002

CYP3A4*16B

CYP3A4.16

554C>G

15603C>G; 20230G>A

 

T185S

 

Decr

Fukushima-Uesaka et al, 2004
Murayama et al., 2002

CYP3A4*17

CYP3A4.17

566T>C 

15615T>C

 

F189S

 

Decr

Dai et al, 2001

CYP3A4*18A

CYP3A4.18

878T>C

20070T>C

 

L293P

Decr (m)

Incr (t, c, e)

Dai et al, 2001
Kang et al., 2008

CYP3A4*18B

CYP3A4.18

878T>C

20070T>C; 20230G>A

 

L293P

 

 

Fukushima-Uesaka et al, 2004

CYP3A4*19

CYP3A4.19

1399C>T

23237C>T; 20230G>A

 

P467S

 

 

Dai et al, 2001

CYP3A4*20

 

1461_1462insA

25889_25890insA

 

488Frameshift

 

None

Westlind-Johnsson et al., 2006

CYP3A4*21

CYP3A4.21

956A>G

20148A>G

 

Y319C

 

 

Zhou et al., 2011

CYP3A4*22

CYP3A4.1

 

15389C>T

 

 

Decr.

 

Wang et al., 2011
Elens et al., 2011a
Elens et al., 2011b

CYP3A4*23

CYP3A4.23

484C>T

-392A>G; 14268C>T; 15753T>G; 20230G>A; 25721A>G

 

R162W  

 

 

Drögemöller et al., 2013

CYP3A4*24

CYP3A4.24

600A>T

-392A>G; 15649A>T; 15753T>G; 20230G>A; 25721A>G

 

Q200H

 

 

Drögemöller et al., 2013

CYP3A4*25

 

 

 

 

 

 

 

To be released

CYP3A4*26

 

802C>T

17633C>T

 

R268Stop

 

None

Werk et al., 2014

Additional SNPs, where the haplotype has not yet been determined

 

 

 

6152G>A; 15837T>A; 17128T>G; 17186C>T; 17292C>T; 23081C>T; 25853G>A; 26084T>C; 26418C>T; 26530T>C; 26707delT; 26888A>T

 

 

 

 

Solus et al., 2004

 

 

 

23197_23198insA

 

453Frameshift

 

 

Solus et al., 2004

 

 

 

15575T>G

 

F176V

 

 

Suman et al., 2009

 

 

 

15717T>G

 

I223R

 

 

Suman et al., 2009

c, chlorpyrifos; e, estrone; m, midazolam; t, testosterone

Changes made since the last update (4-Jul-2013) are marked in red.

Allele frequencies: Mizutani, 2003; Solus et al., 2004

Links to the NCBI dbSNP homepage are available for functional SNPs when present in NCBI's database.

Nucleotide variations in bold are the major SNPs/alterations responsible for the phenotype of the corresponding allele.

OMIM GeneCards