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
CYP1A1 CYP1A2 CYP1B1 CYP2A6 CYP2A13 CYP2B6 CYP2C8 CYP2C9 CYP2C19 CYP2D6 CYP2E1 CYP2F1 CYP2J2
CYP2R1 CYP2S1 CYP2W1 CYP3A4 CYP3A5 CYP3A7 CYP3A43 CYP4A11 CYP4A22 CYP4B1 CYP4F2 CYP5A1 CYP8A1 CYP19A1 CYP21A2 CYP26A1 POR

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