CYP3A5 allele nomenclature

 

Allele

Protein__

Nucleotide changes, 
Gene
*

*To be considered CYP3A5*1A, the reference sequence must be changed to 6986A and 31611C.

Trivial name

Effect

Enzyme_activity

References

In_vivo

In vitro

CYP3A5*1A

CYP3A5.1

None

 

 

Normal

Normal

Aoyama et al, 1989

CYP3A5*1B

CYP3A5.1

-86G>A

  

 

 

 

Kuehl et al, 2001

CYP3A5*1C

CYP3A5.1

-74C>T

  

 

 

 

Kuehl et al, 2001

CYP3A5*1D

CYP3A5.1

31611C>T

  

 

 

 

Hustert et al, 2001

CYP3A5*1E

CYP3A5.1

17163G>T

  

   

   

   

Saeki et al, 2003

CYP3A5*2

CYP3A5.2

27289C>A 

  

T398N

 

 

Jounaidi et al, 1996

CYP3A5*3A

 

6986A>G; 31611C>T 

  

Splicing defect

Decr.

Severely decr.

Kuehl et al, 2001
Wong et al., 2004
Haufroid et al., 2004
Josephson et al., 2007

CYP3A5*3B

 

3705C>T; 3709_3710insG; 6986A>G; 31611C>T

 

H30Y; splicing defect

 

Severely decr.

Hustert et al, 2001

CYP3A5*3C

 

6986A>G

  

Splicing defect

 

Severely decr.

Hustert et al, 2001

CYP3A5*3D

  

6986A>G; 7249T>G

  

Splicing defect; L82R

 

Severely decr.

Lee et al, 2003

CYP3A5*3E

   

6986A>G; 27050A>G; 31611C>T

  

Splicing defect

 

Severely decr.

Lee et al, 2003

CYP3A5*3F

  

6986A>G; 31551T>C; 31611C>T

*3d

Splicing defect; I488T

 

Severely decr.

Saeki et al, 2003

CYP3A5*3G

  

6986A>G; 12952T>C; 31611C>T

*3e

Splicing defect

 

Severely decr.

Saeki et al, 2003

CYP3A5*3H

   

6986A>G; 13108T>C; 31611C>T

*3f

Splicing defect

 

Severely decr.

Saeki et al, 2003

CYP3A5*3I

   

6986A>G; 16903A>G; 31611C>T

*3g

Splicing defect

 

Severely decr.

Saeki et al, 2003

CYP3A5*3J

   

6986A>G; 29782A>G; 31611C>T

*3h

Splicing defect; I456V

 

Severely decr.

Saeki et al, 2003

CYP3A5*3K

 

6986A>G; 29753T>C; 31611C>T

  

Splicing defect; F446S

  

Decr.

Lee et al, 2003

CYP3A5*3L

 

3775A>G; 6986A>G

  

Y53C; splicing defect

  

Decr.

Lee et al., 2006

CYP3A5*4

CYP3A5.4

14665A>G

  

Q200R

 

 

Chou et al, 2001

CYP3A5*5

 

12952T>C

  

Splicing defect

 

 

Chou et al, 2001

CYP3A5*6

 

14690G>A

  

Splicing defect

 

None or severely decr.

Kuehl et al, 2001

CYP3A5*7

 

27131_27132insT

  

346Frameshift

 

 

Hustert et al, 2001

CYP3A5*8

CYP3A5.8

3699C>T

 

R28C

  

Decr.

Lee et al, 2003

CYP3A5*9

CYP3A5.9

19386G>A

Existence of the CYP3A5*3 polymorphism 6986A>G on the same allele cannot be excluded

  

A337T

  

Decr.

Lee et al, 2003

CYP3A5*10

See CYP3A5*3K

CYP3A5*11

see CYP3A5*3L


Additional SNPs, where the haplotype has not yet been determined

  

  

-4336G>A; -3844G>A; -3557T>C; -1617T>C;

-795T>A; 173_175delGGA; 5215C>T; 7182C>A; 7424_7427insCTAAAAAAT; 13077T>G; 13173T>C; 16931_16932insGTC; 17163G>T; 19165G>A; 27526C>T

  

 

 

 

Hustert et al, 2001

 

 

7303C>A

 
 
 

S100Y

 

 

Hustert et al, 2001

  

 
 

16025A>G; 16993C>G; 27448C>A

 

  

 

 

Saeki et al, 2003

  

  

-15A>C; 3818G>A; 13134C>G; 14720A>G; 31499T>C

   

  

  

  

Lee et al., 2003

 

   

76G>A; 3578C>T; 5516T>A; 7207C>T; 8124T>G; 8128A>G; 15788T>C; 16079A>C; 16145C>T; 16205C>T; 16333G>T; 16606G>C; 17118C>T; 19739C>G; 20106A>G; 20417T>C; 20440C>T; 20528C>G; 21115T>C; 26997A>G  

  

  

  

  

Solus et al., 2004

  

  

17052C>G

  

D277E

  

  

Solus et al., 2004

 

 

There exists a haplotype with both the characteristic CYP3A5*2 and CYP3A5*3 SNPs, although allele designations of such a haplotype awaits additional gene sequencing.

 

A yet not fully characterized haplotype of T398N and splicing defect exists

 

 

Guo-Avrutin et al. and Pierce et al., personal communication

Changes made since the last update (15-Jan-2008) are marked in red.

Allele frequencies: Xie et al., 2004; Solus et al., 2004; Roy et al., 2005 

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

 


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This page was updated 28-Nov-2013 by Sarah C Sim
Questions and comments are always welcome