CYP2A6 allele nomenclature

Allele

Protein

Nucleotide changes

Trivial name

Effect

Enzyme activity

References

cDNA*

*To be considered CYP2A6*1A, the cDNA reference sequence must be changed to 51G.

Gene*

*To be considered CYP2A6*1A, the genomic reference sequence must be changed to 51G.

In vivo

In vitro

CYP2A6*1A

CYP2A6.1

None

None

 

 

Normal

Normal

Yamano et al., 1990

CYP2A6*1B1 (formerly CYP2A6*1B, has also been called CYP2A6*1E)

CYP2A6.1

gene conversion in 3’ flanking region

 

 

Incr.?

 

Yamano et al., 1990
Nakajima et al., 2001

Pitarque et al., 2004

CYP2A6*1B2 (has also been called CYP2A6*1B)

CYP2A6.1

gene conversion in the 3' flanking region

-1013A>G; gene conversion in the 3' flanking region

 

 

 

 

Oscarson et al., 1999b
Ariyoshi et al., 2000
Pitarque et al., 2004

CYP2A6*1B3 (formerly CYP2A6*1C)

CYP2A6.1

gene conversion in 3’ flanking region

-395G>A; gene conversion in 3’ flanking region

 

 

 

 

Kiyotani et al., 2002

CYP2A6*1B4 

CYP2A6.1

gene conversion in 3’ flanking region

gene conversion in 3’ flanking region, gene conversion at 7073-7082

 

 

 

 

Mwenifumbo et al., 2010

CYP2A6*1B5 Tentative allele

CYP2A6.1

gene conversion in 3’ flanking region

-1680A>G; -1579T>C;
-1301A>C;  -1289G>A;
-1013A>G; 1620T>C; gene conversion in 3’ flanking region

 

 

 

 

Haberl et al., 2005

CYP2A6*1B6 Predicted haplotype/ Tentative allele

CYP2A6.1

gene conversion in 3’ flanking region

-1680A>G; -1579T>C;
-1301A>C;  -1289G>A;
-1013A>G; 1620T>C; 6285A>G; 6293T>C; gene conversion in 3’ flanking region

 

 

 

 

Haberl et al., 2005

CYP2A6*1B7 Predicted haplotype/ Tentative allele

CYP2A6.1

gene conversion in 3’ flanking region

-1680A>G; -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; 1620T>C; gene conversion in 3’ flanking region

 

 

 

 

Haberl et al., 2005

CYP2A6*1B8 Tentative allele

CYP2A6.1

gene conversion in 3’ flanking region

-1680A>G; -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; -1013A>G; 1620T>C; gene conversion in 3’ flanking region

 

 

 

 

Haberl et al., 2005

CYP2A6*1B9 Predicted haplotype/ Tentative allele

CYP2A6.1

gene conversion in 3’ flanking region

-1680A>G; -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; -1013A>G; 1620T>C; 6390C>G; gene conversion in 3’ flanking region

 

 

 

 

Haberl et al., 2005

CYP2A6*1B10 Predicted haplotype/ Tentative allele

CYP2A6.1

gene conversion in 3’ flanking region

-1680A>G; -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; -1013A>G; 1620T>C; 6389C>G; gene conversion in 3’ flanking region

 

 

 

 

Haberl et al., 2005

CYP2A6*1B11 Predicted haplotype/ Tentative allele

CYP2A6.1

gene conversion in 3’ flanking region

-1680A>G; -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; -1013A>G; 1620T>C; 5628C>T; gene conversion in 3’ flanking region

 

 

 

 

Haberl et al., 2005

CYP2A6*1B12 Predicted haplotype/ Tentative allele

CYP2A6.1

51G>A; gene conversion in 3’ flanking region

51G>A; gene conversion in 3’ flanking region

 

 

 

 

Haberl et al., 2005

CYP2A6*1B13

CYP2A6.1

22C>T; 1545C>G; gene conversion in 3’ flanking region

-745A>G; 22C>T; 6691C>G; gene conversion in 3’-UTR

 

 

 

 

Nakajima et al., 2006

CYP2A6*1B14

CYP2A6.1

51G>A; gene conversion in 3'-UTR; 1636C>G

51G>A; 338T>C; gene conversion in 3'-UTR; 6782C>G; 6935_6936insCACTT; 7160A>G

 

 

 

 

Mwenifumbo et al., 2007

CYP2A6*1B15

CYP2A6.1

gene conversion in 3'-UTR; 1636C>G

-1301A>C; -1289G>A;
-967A>C; 1381_1382CT>TC; 1471_1476delCTCTCT; 1620T>C; 3225A>G; gene conversion in 3'-UTR; 6782C>G; 6935_6936insCACTT; 6960_6961insGAAAAG; 7160A>G

 

 

 

 

Mwenifumbo et al., 2007

CYP2A6*1B16

CYP2A6.1

22C>T; 1191T>C; gene conversion in 3'-UTR; 1636C>G

-1301A>C; -1289G>A;
-745A>G; 22C>T; 1630T>C; 5684T>C; gene conversion in 3'-UTR; 6782C>G; 6935_6936insCACTT; 6960_6961insGAAAAG; 6989A>G; 7008_7009TC>GCTCTA; 7160A>G

 

 

 

 

Mwenifumbo et al., 2007

CYP2A6*1B17

CYP2A6.1

51G>A; 1005C>T; gene conversion in 3'-UTR

 

51G>A; 1620T>C; 1646C>T; 2296C>T; 2483G>A; 2994T>C; 3788C>T; 4071delA; 4636A>C; 4850C>T; 4977C>T; 5668A; 6143C>A; gene conversion in 3'-UTR; 6782C>G; 6832A>G; 6835C>A; 6935_6936insCACTT; 6960_6961insGAAAAG; 6989A>G; 7160A>G

 

 

 

 

Mwenifumbo et al., 2008

CYP2A6*1C

 

See CYP2A6*1B3

 

 

 

 

 

CYP2A6*1D Predicted haplotype

CYP2A6.1

-1013A>G

 

 

 

 

Pitarque et al., 2004

CYP2A6*1E

 

See CYP2A6*1B1

 

 

 

 

 

CYP2A6*1F

CYP2A6.1

1224C>T

5717C>T

 

 

 

 

Nakajima et al., 2004

CYP2A6*1G

CYP2A6.1

1224C>T

5717C>T; 5825A>G

 

 

 

 

Nakajima et al., 2004

CYP2A6*1H Predicted haplotype

CYP2A6.1

 

-745A>G

 

 

 

Decr.?

von Richter et al., 2004

CYP2A6*1J Predicted haplotype

CYP2A6.1

 

-1013A>G; -745A>G

 

 

 

 

von Richter et al., 2004

CYP2A6*1K

CYP2A6.1

459G>A; 657C>T

-1301A>C; -1289G>A;
-1199_-1198ins316bpAlu; -686A>G; 51G; 431C>T; 1620T>C; 1779G>A; 2483G>A; 2994T>C; 3378C>T; 3904G>A 4074delA; 5668A; 6354T>C; 7160A>G

 

 

 

 

Mwenifumbo et al., 2008

CYP2A6*1L

CYP2A6.1

 

Gene conversion at 7073-7082

 

 

 

 

Mwenifumbo et al., 2010

CYP2A6*1X2A

CYP2A6.1

Breakpoint at intron 8 - 3'-UTR

 

CYP2A6 gene duplication

 

 

Rao et al., 2000
 

CYP2A6*1X2B

CYP2A6.1

Breakpoint at 5.2 - 5.6 kb downstream from stop codon

 

CYP2A6 gene duplication

 

 

Fukami et al., 2007

CYP2A6*2

CYP2A6.2

51G>A; 479T>A

51G>A; 1799T>A

v1

L160H

None

None

Yamano et al., 1990
Hadidi et al., 1997
Oscarson et al., 1998

CYP2A6*3

CYP2A6.3

CYP2A6/CYP2A7 hybrid

v2

 

?

?

Fernandez-Salguero et al., 1995

CYP2A6*4A

 

CYP2A6 deleted

CYP2A6del,
E-type

CYP2A6 deleted

None

 

Oscarson et al., 1999a
Nunoya et al., 1999a
Nunoya et al., 1999b
Ariyoshi et al., 2000

CYP2A6*4B

 

CYP2A6 deleted

 

CYP2A6 deleted

None

 

Nunoya et al., 1998       
Ariyoshi et al., 2002
    
Ariyoshi et al., 2004

CYP2A6*4C

Identical to the CYP2A6*4A  allele (see above)

CYP2A6*4D

 

CYP2A6 deleted

 

CYP2A6 deleted

None

 

Oscarson et al., 1999b

CYP2A6*4E

 

CYP2A6 deleted

 

 

CYP2A6 deleted

 

 

Mwenifumbo et al., 2008

CYP2A6*4F

 

CYP2A6 deleted

 

 

CYP2A6 deleted

 

 

Mwenifumbo et al., 2008

CYP2A6*4G

 

CYP2A6 deleted

 

CYP2A6 deleted

 

 

Mwenifumbo et al., 2010

CYP2A6*4H

 

CYP2A6 deleted

 

CYP2A6 deleted

 

 

Mwenifumbo et al., 2010

CYP2A6*5

CYP2A6.5

1436G>T; gene conversion in the 3’ flanking region

6582G>T; gene conversion in the 3’ flanking region

 

G479V

None

None

Oscarson et al., 1999b

CYP2A6*6

CYP2A6.6

383G>A

1703G>A

 

R128Q

 

Decr.

Kitagawa et al., 2001

CYP2A6*7

CYP2A6.7

1412T>C; gene conversion in the 3' flanking region 

6558T>C; gene conversion in the 3' flanking region 

 

I471T

(Decr.) 

Decr.

Ariyoshi et al., 2001
Xu et al., 2002

CYP2A6*8

CYP2A6.8

1454G>T; gene conversion in the 3' flanking region 

6600G>T; gene conversion in the 3' flanking region

 

R485L

Normal

 

Ariyoshi et al., 2001
Xu et al., 2002

CYP2A6*9A

CYP2A6.1

 

-1013A>G; -48T>G

 

TATA box

Decr .

Decr.

Pitarque et al., 2001
Yoshida et al., 2003

Kiyotani et al., 2003
von Richter et al., 2004

CYP2A6*9B

CYP2A6.1

1547C>G

-1680A>G: -1301A>C;
-1289G>A; -1013A>G;
-48T>G; 1620T>C; 1836G>T; 6354T>C; 6692C>G

 

TATA box

 

 

Haberl et al., 2005

CYP2A6*10

CYP2A6.10

1412T>C; 1454G>T; gene conversion in the 3' flanking region

6558T>C; 6600G>T; gene conversion in the 3' flanking region

 

I471T; R485L

Decr.

 

Yoshida et al., 2002
Xu et al., 2002

CYP2A6*11

CYP2A6.11

670T>C

3391T>C

 

S224P

Decr.

Decr.

Daigo et al., 2002

CYP2A6*12A

CYP2A6.12

exons 1-2 of CYP2A7 origin; exons 3-9 of CYP2A6 origin

 

10 aa substitutions 

Decr.

Decr.

Oscarson et al., 2002

CYP2A6*12B

CYP2A6.12

exons 1-2 of CYP2A7 origin; exons 3-9 of CYP2A6 origin; 1547C>G

exons 1-2 of CYP2A7 origin; exons 3-9 of CYP2A6 origin; 1620T>C; 3396G>A; 4489C>T; 5163G>A; 5545G>C; 5717C>G; 6692C>G

 

10 aa substitutions 

 

 

Haberl et al., 2005

CYP2A6*12C

CYP2A6.12

exons 1-2 of CYP2A7 origin; exons 3-9 of CYP2A6 origin; 1547C>G

exons 1-2 of CYP2A7 origin; exons 3-9 of CYP2A6 origin; 1620T>C; 1630G>C; 3396G>A; 4489C>T; 5163G>A; 5545G>C; 5717C>G; 6692C>G

 

10 aa substitutions 

 

 

Haberl et al., 2005

CYP2A6*13

CYP2A6.13

13G>A

-48T>G; 13G>A

 

G5R

 

 

Kiyotani et al., 2002

CYP2A6*14

CYP2A6.14

51G>A; 86G>A

51G>A; 86G>A

 

S29N

 

 

Kiyotani et al., 2002

CYP2A6*15

CYP2A6.15

580A>G

-48T>G; 2134A>G

 

K194E

 

 

Kiyotani et al., 2002

CYP2A6*16

CYP2A6.16

607C>A

2161C>A

 

R203S

 

 

Kiyotani et al., 2002

CYP2A6*17

CYP2A6.17

459G>A; 1093G>A; 1224C>T

209C>T; 1779G>A; 4489C>T; 5065G>A; 5163G>A; 5717C>T; 5825A>G

 

V365M

Decr.

Decr.

Fukami et al., 2004

CYP2A6*18A

CYP2A6.18

1175A>T

5668A>T

 

Y392F

 

Decr

Fukami et al., 2005a

CYP2A6*18B

CYP2A6.18

51G>A; 1175A>T; 1191T>C; 1209T>C

51G>A; 5668A>T; 5684T>C; 5702T>C

 

Y392F

 

Decr.

Fukami et al., 2005a

CYP2A6*18C Predicted haplotype

CYP2A6.18

1175A>T; 1546C>G

-1680A>G: -1579T>C;
-1464A>T; -1301A>C;
-1289G>A; -1013A>G; 1620T>C;
5668A>T; 6692C>G

 

Y392F

 

 

Haberl et al., 2005

CYP2A6*19

CYP2A6.19

1175A>T; 1412T>C; gene conversion in the 3' flanking region

5668A>T; 6354T>C: 6558T>C; gene conversion in the 3' flanking region

 

Y392F; I471T

 

Decr.

Fukami et al., 2005a

CYP2A6*20

CYP2A6.20

51G>A; 587_588delAA; 1191T>C; 1546C>G

51G>A; 2141_2142delAA; 2296C>T; 5684T>C; 6692C>G

 

196Frameshift

Decr.

None

Fukami et al., 2005b
Mwenifumbo et al., 2008

CYP2A6*21 Predicted haplotype

CYP2A6.21

51G>A; 1427A>G

51G>A; 6573A>G

 

K476R

Decr.

 

Haberl et al., 2005
Mwenifumbo et al., 2008

CYP2A6*22 Predicted haplotype

CYP2A6.22

51G>A; 474C>G; 478C>A

51G>A; 1794C>G; 1798C>A

 

D158E;  L160I

 

 

Haberl et al., 2005

CYP2A6*23

CYP2A6.23

607C>T

2161C>T

 

R203C

Decr.

Decr.

Ho et al., 2008

CYP2A6*24A

CYP2A6.24

312A>G; 328G>C; 1312A>T

-1301A>C; -1289G>A;
-1013A>G; 51G; 578A>G;
594G>C; 720G>A; 1137C>G; 1620T>C; 2483G>A; 3225A>G; 5668A; 6218A>G; 6282A>G; 6293T>C; 6354T>C; 6458A>T; gene conversion in 3'-UTR; 6782C>G; 7160A>G

 

V110L; N438Y

Decr.

 

Mwenifumbo et al., 2008

 

CYP2A6*24B

CYP2A6.24

312A>G; 328G>C; 1312A>T

-1301A>C; -1289G>A;
-1013A>G; 51G; 578A>G;
594G>C; 720G>A; 1137C>G; 1381_1382CT>TC; 1481_1486delCTCTCT; 1620T>C; 2483G>A; 3225A>G; 5668A; 6218A>G; 6282A>G; 6293T>C; 6354T>C; 6458A>T; gene conversion in 3'-UTR; 6782C>G; 7160A>G

 

V110L; N438Y

 

 

Mwenifumbo et al., 2008

 

CYP2A6*25

CYP2A6.25

22C>T; 352T>C; 1440T>C

-1301A>C; -1289G>A;
-745A>G; 22C>T; 51G; 768A>T; 1620T>C;
1672T>C; 2296C>T; 2483G>A; 2605G>A; 2921G>A; 2994T>C; 4636A>C; 5668A; 6586T>C; 6692C>G; 7160A>G

 

F118L

 

 

Mwenifumbo et al., 2008

CYP2A6*26

CYP2A6.26

22C>T; 352T>C; 383G>T; 390C>T; 391T>G; 1440T>C

 

-1301A>C; -1289G>A; -745A>G; 22C>T; 51G; 1165G>A; 1620T>C; 1672T>C; 1703G>T; 1710C>T; 1711T>G; 2296C>T; 2483G>A; 2994T>C; 4071delA; 4636A>C; 5668A; 6115C>T; 6586T>C; 6692C>G; 7160A>G

 

F118L; R128L; S131A

Decr.

Decr.

Mwenifumbo et al., 2008

CYP2A6*27

CYP2A6.27

22C>T; 352T>C; 608_609GC>A; 1440T>C

 

-1301A>C; -1289G>A;
-745A>G; 22C>T; 51G;1620T>C;
1672T>C; 2162_2163GC>A; 2296C>T; 2483G>A; 2994T>C; 3872G>A; 4071delA; 4636A>C; 5668A; 5857T>A; 6586T>C; 6692C>G; 7160A>G

 

F118L; R203Frameshift

 

Decr.

Mwenifumbo et al., 2008

CYP2A6*28A

CYP2A6.28

51G>A; 1245C>T; 1252A>G; 1257G>C

-1269T>C; 51G>A; 656G>T; 1620T>C; 4681T>G; 5668A; 5738C>T; 5745A>G; 5750G>C; 6354T>C; 6361C>A; 6385G>T; 6389C>G; 6390T>C; gene conversion in 3'-UTR; 6782C>G; 7160A>G

 

N418D; E419D

 

 

Mwenifumbo et al., 2008

CYP2A6*28B

CYP2A6.28

51G>A; 1245C>T; 1252A>G; 1257G>C

-1269T>C; 51G>A; 656G>T; 1381_1382CT>TC; 1481_1486delCTCTCT; 1620T>C; 4681T>G; 5668A; 5738C>T; 5745A>G; 5750G>C; 6354T>C; 6361C>A; gene conversion in 3'-UTR; 6960_6961insGAAAAG; 7160A>G

 

N418D; E419D

 

 

Mwenifumbo et al., 2008

CYP2A6*29

 

 

 

 

 

 

 

To be released

CYP2A6*30

 

 

 

 

 

 

 

To be released

CYP2A6*31A

CYP2A6.31

16A>C

-1289G>A; -1013A>G;
-492_-470delCCCCTTCCTGAGACCCTTAACCC
insAATCCATATGTGGAATCTG; 16A>C; 51G; 1339C>G; 1620T>C; 2721G>A; 2994T>C; 3255A>G; 3315C>T; 5668A; 6692C>G; 7160A>G; 7568C>T

 

M6L

 

 

Mwenifumbo et al., 2008

CYP2A6*31B

CYP2A6.31

16A>C; 201C>T

-1289G>A; -1013A>G;
-492_-470delCCCCTTCCTGAGACCCTTAACCC
insAATCCATATGTGGAATCTG; -975T>C; 16A>C; 51G; 467C>T; 1339C>G; 1620T>C; 2721G>A; 2994T>C; 3225A>G; 3315C>T; 4074delA; 5668A; 6692C>G; 7160A>G

 

M6L

 

 

Mwenifumbo et al., 2008

CYP2A6*32

 

 

 

 

 

 

 

To be released

CYP2A6*33

 

 

 

 

 

 

 

To be released

CYP2A6*34

CYP2A6.34

Exons 1-4 of CYP2A7 origin; exons 5-9 of CYP2A6 origin (breakpoint in intron 4)

 

M6L; V13A; K30R; Q53H; M54I; Y55C; N56D; L58I; I61F; R64C; V117A; R128L; S131A; A153S; D158E; L160I; G162S; G164H; K194E; R203S; M204V

 

 

Iulio et al., 2009

CYP2A6*35A

CYP2A6.35

1312A>T

-1301A>C; -1289G>A;
-1013A>G; 720G>A; 1137C>G; 1620T>C; 2483G>A; 3225A>G; 6218A>G; 6282A>G; 6293T>C; 6354T>C;
6458A>T; gene conversion in the 3’ flanking region; 6782C>G; 7160A>G

 

N438Y

Decr.

Decr.

Koudsi et al., 2009

CYP2A6*35B

CYP2A6.35

22C>T; 1312A>T

-1301A>C; -1289G>A; -745A>G; 22C>T; 1620T>C; 4084delA; 6458A>T; gene conversion in the 3’ flanking region; 6782C>G; 6835C>A; 6999T>C; 7160A>G

 

N438Y

Decr.

Decr.

Koudsi et al., 2009

CYP2A6*36

CYP2A6.36

22C>T; 1312A>T; 1412T>C

-1301A>C; -1289G>A; -745A>G; 22C>T; 1620T>C; 4084delA; 6458A>T; 6558T>C; gene conversion in the 3’ flanking region; 6782C>G; 6835C>A; 6999T>C; 7160A>G

 

N438Y; I471T

 

 

Koudsi et al., 2009

CYP2A6*37

CYP2A6.37

22C>T; 1312A>T; 1412T>C; 1454G>T

-1301A>C; -1289G>A; -745A>G; 22C>T; 1620T>C; 4084delA; 6354T>C; 6458A>T; 6558T>C; 6600G>T; gene conversion in the 3’ flanking region; 6782C>G; 6835C>A; 6936_6937insCACTT; 6961_6962insGAAAAG; 6989A>G; 6999T>C; 7160A>G

 

N438Y; I471T; R485L

 

 

Koudsi et al., 2009

CYP2A6*38

CYP2A6.38

1051T>C

5023A>G

 

Y351H

 

 

Bloom et al., 2011

CYP2A6*39

CYP2A6.39

171C>A; 202G>A; 459G>A; 1224C>T

171C>A; 468G>A; 1779G>A; 5717C>T

 

V68M

Decr. expr./Decr. activity per pmol

 

Piliguan et al., 2014

CYP2A6*40

CYP2A6.40

144G>A; 447C>G; 771C>T; 1237C>T

144G>A; 1767C>G; 3492C>T; 5738C>T

 

I149M

Decr. expr./Decr. activity per pmol

 

Piliguian et al., 2014

CYP2A6*41

CYP2A6.41

51G>A; 241C>T; 794G>A

 

51G>A; 507C>T; 3515G>A

 

 

R265Q

None

Decr.

Piliguian et al., 2014

CYP2A6*42

CYP2A6.42

51G>A; 803T>C; 1191T>C

 

51G>A; 3524T>C; 5684T>C

 

I268T

Decr. expr./Incr. activity per pmol

 

Piliguian et al., 2014

CYP2A6*43

CYP2A6.43

908C>T

4406C>T

 

 

T303I

Decr. expr./Unchanged activity per pmol

 

Piliguian et al., 2014

CYP2A6*44

CYP2A6.44

51G>A; 1168G>A; 1245C>T; 1252A>G; 1257G>C

51G>A; 5661G>A; 5738C>T; 5745A>G; 5750G>C

 

E390K; N418D; E419D

Decr. expr./Incr. activity per pmol

 

Piliguian et al., 2014

CYP2A6*45

CYP2A6.45

51G>A; 956G>A; 1385T>C

51G>A; 4464G>A; 6531T>C

 

 

L462P

Decr. expr./Decr. activity per pmol

 

Piliguian et al., 2014

Additional SNPs, present in characterized haplotypes

 

 

 

-1890C>T; -1643C>T;
-1569T>C; -1162G>A;
-745A>G; 144G>A; 3492C>T; 3570C>G; 4932C>T; 5684T>C; 5738C>T; 5823C>T; 5843G>C

 

 

 

 

Haberl et al., 2005

Additional SNPs, where the haplotype has not yet been determined

 

 

 

1620T>C; 1836G>T; 1874G>T; 1890G>C; 2026C>T; 3396G>A; 3570C>G; 4489C>T; 4932C>A; 5336G>A; 6282A>G; 6354T>C; 6692C>G; 6832A>G; 6835C>A

 

 

 

 

Kiyotani et al., 2002

 

 

 

209C>T

 

 

 

 

Saito et al., 2003

 

 

 

237G>A; 388C>G; 413T>G; 618delG; 3332G>A; 4350G>A; 4636A>C; 5142C>T; 5437C>T; 5521A>T; 5525G>C; 5545G>C; 5573A>C; 5684T>C; 5717C>T; 6361C>A; 6389C>G; 6681A>G; 6685C>T; 6688A>G; 6690A>G; 6696C>T; 6698T>C; 6699insC; 6703delG; 6706G>A; 6710C>G; 6712A>G; 6713G>T; 6714C>A; 6720C>A; 6726C>G; 6729G>A; 6734G>C; 6735C>G

 

 

 

 

Solus et al., 2004

 

  

 

567C>T

 

R101X

 

 

Haberl et al., 2005

 

   

 

2061T>G

 

D169E

 

 

Haberl et al., 2005

 

   

 

3515G>A

 

R265Q

 

 

Haberl et al., 2005

 

   

 

5661G>A

 

E390K

 

 

Haberl et al., 2005

 

 

 

-1126C>A; 467C>T; 557G>A; 578A>G; 1710C>T; 2035G>T; 2039T>C; 2158T>C; 2274G>C; 3315C>T; 4193G>C; 4561G>A; 5162C>T; 5636A>C; 5660C>T; 5732C>T; 6586T>C

 

 

 

 

Haberl et al., 2005

Changes made since the last update (27-Jan-2012) 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

 

 


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 This page was updated 21-Jan-2014 by Sarah C Sim
Questions and comments are always welcome