|
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
|