P450 oxidoreductase (POR) allele nomenclature

Allele

Protein

Nucleotide changes

Effect

Verified clinical phenotype

In vitro activity

References

cDNA

Gene

POR*1

POR.1

None

None

  

 

 

 

POR*2

POR.2

1370G>A

31187G>A

R457H

Decr.

None

Fluck et al., 2004
Arlt et al., 2004
Adachi et al., 2004
Sandee et al., 2010

POR*3

 

 

27615G>A

Splicing defect

Decr.

 

Fluck et al., 2004

POR*4

POR.4

1475T>A

31663T>A

V492E

Decr.

 

Fluck et al., 2004

POR*5

POR.5

859G>C

29556G>C

A287P

Decr.

 Decr.

Fluck et al., 2004
Arlt et al., 2004
Sandee et al., 2010

POR*6

POR.6

1706G>A

31967G>A

C569Y

Decr.

 

Fluck et al., 2004
Arlt et al., 2004

POR*7

 POR.7

1822G>T

32173G>T

V608F

Decr.

 

Fluck et al., 2004

POR*8

 POR.8

541T>G

27080T>G

Y181D

Decr.

 

Arlt et al., 2004

POR*9

 

1329_1330insC

31146_31147insC

444Frameshift

None

 

Adachi et al., 2004

POR*10

 

1508C>T; 1698_1699insC

31696C>T; 319593_1960insC

A503V; 567Frameshift

None

 

Adachi et al., 2004
Fukami et al., 2009

POR*11

POR.11

344C>T

25565C>T

A115V

Decr.

 

Huang et al., 2005

POR*12

POR.12

424A>G

26404A>G

T142A

Decr.

 

Huang et al., 2005

POR*13

POR.13

458A>G

26438A>G

Q153R

Decr.

Incr.

Huang et al., 2005
Sandee et al., 2010

POR*14

POR.14

787A>G

28287A>G

M263V

Decr.

 

Huang et al., 2005

POR*15

POR.15

1375T>C

31192T>C

Y459H

Decr.

 

Huang et al., 2005

POR*16

POR.16

1615G>A

31803G>A

G539R

Decr.

 

Huang et al., 2005

POR*17

POR.17

1694T>C

31955T>C

L565P

Decr.

 

Huang et al., 2005

POR*18

 

1846C>T

32197C>T

R616X

Decr.

 

Huang et al., 2005

POR*19

POR.19

1937_1939delTCT

32383_32385delTCT

F646del

Decr.

 

Huang et al., 2005

POR*20

 

580_581insTACGTGGACAAGC

27119_27120insTACGTGGACAAGC

194Frameshift

None

 

Huang et al., 2005

POR*21

 

1551_1552insTGCCCATGTTCGTGCGC

31739_31740insTGCCCATGTTCGTGCGC

518Frameshift

None

 

Huang et al., 2005

POR*22

 

1619_1620insCCTTCAAGGCCACCA-CGCCTGTCATCATGATGGGCCCCGG-CACCGGGGT

31807_31808insCCTTCAAGGCCACCA-CGCCTGTCATCATGATGGGCCCCGG-CACCGGGGT

540Frameshift

None

 

Huang et al., 2005

POR*23

 

1621_1622insC

31809_31810insC

541Frameshift

None

 

Huang et al., 2005

POR*24

 

1348_1349insGAGC

31165_31166insGAGC

450Frameshift

None

 

Huang et al., 2005

POR*25

POR.25

147G>C

147G>C

K49N

 

 

Hart et al., 2007

POR*26

POR.26

1258C>A

31075C>A

L420M

 

 

Hart et al., 2007

POR*27

POR.27

1730T>C

31991T>C

L577P

 

Decr.

Hart et al., 2007

Hart et al., 2008

POR*28

POR.28

1508C>T

31696C>T

A503V

Incr. (CYP3A5, CYP3A)

Decr. (CYP2D6, Cytochrome c, NADPH, CYP17A1)

Huang et al., 2005
Fukami et al., 2005

Oneda et al.,2009

Sandee et al., 2010

de Jonge et al., 2011

POR*29

POR.29

571G>C

27110G>C

V191L

 

 

Haiman et al., 2007

POR*30

POR.30

1339C>A

31156C>A

L447M

 

 

Haiman et al., 2007

POR*31

POR.31

601C>T

27140C>T

Q201X

Decr.

 

Homma et al., 2006

POR*32

POR.32

1386insATCGCC; 1508C>T

312003insATCGCC; 31696C>T

A462insIA; A503V

Decr.

 

Homma et al., 2006
Fukami et al., 2009

POR*33

POR.33

1508C>T; 1835_1858delTAAAGCAAGACCGAGAGCA-CCTGT

31696C>T; 32186_32210delTAAAGCAAGACCGAGA-GCACCTGT

A503V; L612_W620delinsR

Decr.

 

Fukami et al., 2005

POR*34

POR.34

1733A>G

31994A>G

Y578C

Decr.

 

Fukami et al., 2005

POR*35

POR.35

1738G>C

31999G>C

E580Q

Decr.

 

Homma et al., 2006

POR*36

POR.36

237G>A, 366C>T, 683C>T, 830C>T, 831C>T, 1455T>C, 1508C>T, 2349G>A

18557G>A, 25723C>T, 27566C>T, 28446C>T, 29493C>T, 31643T>C, 31696C>T, 32795G>A

P228L, A503V

 

 

Gomes et al., 2009

POR*37

POR.37

830C>T, 831C>T, 1399G>A, 1455T>C, 1508C>T, 1891G>A, 2349G>A

28446C>T, 29493C>T, 31467G>A, 31643T>C, 31696C>T, 32242G>A, 32795G>A

A503V, V631I

 

 

Gomes et al., 2009

POR*38

POR.38

143delG

381443delG

48Frameshift

None

 

Fukami et al., 2009

POR*39

POR.39

1665delG

31853delG

555Frameshift

None

 

Fukami et al., 2009

POR*40

POR.40

1042_1044delGTC; 1508C>T

29840_29842delGTC; 31696C>T

348delV; A503V

Decr.

 

Fukami et al., 2009

POR*41

POR.41

Deletion of exons 2-13

Deletion of exons 2-13

delExon 2-13

None

 

Fukami et al., 2009

POR*42

POR.42

387G>A; 1237G>A

26367G>A; 30955G>A

G413S

 

 

Saito et al., 2011

POR*43

POR.43

387G>A; 1975G>A

26367G>A; 32421G>A

A659T

 

 

Saito et al., 2011

POR*44

POR.44

304T>C

69416T>C

S102P

 

 

Tomkova et al., 2012

POR*45

POR.45

490G>A

70361G>A

V164M

 

 

Tomkova et al., 2012

POR*46

POR.46

571G>A

71001G>A

V191M

 

 

Tomkova et al., 2012

POR*47

POR.47

1030G>A

73719G>A

D344N

 

 

Tomkova et al., 2012

POR*48

POR.48

1193A>C

74802A>C

E398A

 

 

Tomkova et al., 2012

Additional SNPs, where the haplotype has not yet been determined

 

 

 

 

E53del

 

 

Huang et al., 2008

 

 

 

 

P55L

 

 

Huang et al., 2008

 

 

 

 

D211N

 

 

Huang et al., 2008

 

 

 

 

G213E

 

 

Huang et al., 2008

 

 

 

 

P284L

 

 

Huang et al., 2008

 

 

 

 

P284T

 

 

Huang et al., 2008

 

 

 

 

E300K

 

 

Huang et al., 2008

 

 

 

 

R406H

 

 

Huang et al., 2008

 

 

 

 

P452L

 

 

Huang et al., 2008

 

 

 

 

A462T

 

 

Huang et al., 2008

 

 

 

 

V472M

 

 

Huang et al., 2008

 

 

 

 

A485T

 

 

Huang et al., 2008

 

 

 

 

R600W

 

 

Huang et al., 2008

 

 

 

 

Y607C

 

 

Huang et al., 2008

 

 

 

 

H628P

 

 

Dhir et al., 2007

 

 

 

 

G504R

 

 

Saito et al., 2011

 

 

 

 

R550W

 

 

Saito et al., 2011

 

 

 

 

R570C

 

 

Saito et al., 2011

 

 

 

 

T29M

 

 

Saito et al., 2011

 

 

 

 

D648N (linkage with A503V is unknown)

 

 

Tomkova et al., 2012

 

Changes made since the last update (11-Oct-2011) are marked in red.

Links to the NCBI dbSNP homepage are available for 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

 

 


Home Page Inclusion criteria
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 This page was updated 23-May -2012 by Sarah C Sim
Questions and comments are always welcome