CYP1B1 allele nomenclature

CYP1B1 alleles are shown per legacy content of the Human P450 Nomenclature database and have not been updated since 2017. Curation by PharmVar is pending.

Allele	Protein	Nucleotide changes,  gene	Trivial name	Effect	Enzyme activity		References
					In vivo	In vitro
CYP1B1*1	CYP1B1.1	None	Wild-type		Normal	Normal	Tang et al, 1996
CYP1B1*2	CYP1B1.2	142C>G; 355G>T		R48G; A119S			Stoilov et al, 1998 McLellan et al, 2000
CYP1B1*3	CYP1B1.3	4326C>G		L432V			Stoilov et al, 1998 Bailey et al, 1998
CYP1B1*4	CYP1B1.4	4390A>G		N453S			Stoilov et al, 1998 Bailey et al, 1998
CYP1B1*5	CYP1B1.5	142C>G; 4326C>G		R48G; L432V			Aklillu et al, 2002
CYP1B1*6	CYP1B1.6	142C>G; 355G>T; 4326C>G		R48G; A119S; L432V			Aklillu et al, 2002
CYP1B1*7	CYP1B1.7	142C>G; 355G>T; 4326C>G; 4360C>G		R48G; A119S; L432V; A443G			Aklillu et al, 2002
CYP1B1*8	CYP1B1.8	4326C>G; 4353G>C; 4379C>T		L432V; D441H			Rahman et al., unpublished
CYP1B1*9		Submission terminated
CYP1B1*10		Submission terminated
CYP1B1*11	CYP1B1.11	171G>C	a	W57C			Stoilov et al, 1998
CYP1B1*12	CYP1B1.12	182G>A	b	G61E			Stoilov et al, 1998
CYP1B1*13		501_502insT	c	167Frameshift			Stoilov et al, 1998
CYP1B1*14		841G>T	d	E281X			Stoilov et al, 1998
CYP1B1*15		863_864insC	e	288Frameshift			Stoilov et al, 1997
CYP1B1*16		Large deletion	f	Splicing defect			Stoilov et al, 1997
CYP1B1*17		4096_4108del	g	355Frameshift			Stoilov et al, 1997
CYP1B1*18	CYP1B1.18	4125G>T	h	G365W			Stoilov et al, 1998
CYP1B1*19	CYP1B1.19	4168C>T	i	P379L			Stoilov et al, 1998
CYP1B1*20	CYP1B1.20	4191G>A	j	E387K			Stoilov et al, 1998
CYP1B1*21	CYP1B1.21	4201G>A	k	R390H			Stoilov et al, 1998
CYP1B1*22		4232_4241dup	l	404Frameshift			Stoilov et al, 1998
CYP1B1*23	CYP1B1.23	4342C>T	m	P437L			Stoilov et al, 1998
CYP1B1*24		4377delG	n	449Frameshift			Stoilov et al, 1998
CYP1B1*25	CYP1B1.25	4437C>T	o	R469W			Stoilov et al, 1998
CYP1B1*26		4435_4461dup	p	477Frameshift			Stoilov et al, 1998
Additional SNPs, where the haplotype has not yet been determined
		c.171G>A		W57X			Prokudin et al., 2013
		c.868insC		290Frameshift			Prokudin et al., 2013
		c.241T>A		Y81N			Prokudin et al., 2013
		c.685G>A		E229K			Prokudin et al., 2013
		c.1103G>A		R368H			Prokudin et al., 2013

Changes made since the last update (21-Jan-2014) are marked in red.

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