CYP4B1 allele nomenclature

Allele	Protein	Nucleotide changes, cDNA	Effect	Enzyme activity		References
				In_vivo	In_vitro
CYP4B1*1	CYP4B1.1	None	None	Normal	Normal
CYP4B1*2A		881_882delAT; 993G>A;  1018C>T; 1123C>T	294Frameshift			Lo-Guidice et al, 2002
CYP4B1*2B		881_882delAT; 993G>A; 1018C>T	294Frameshift			Hiratsuka et al., 2004
CYP4B1*3	CYP4B1.3	517C>T	R173W			Lo-Guidice et al, 2002
CYP4B1*4	CYP4B1.4	964A>G	S322G			Lo-Guidice et al, 2002
CYP4B1*5	CYP4B1.5	993G>A	M331I			Lo-Guidice et al, 2002
CYP4B1*6	CYP4B1.6	517C>T; 1033G>A	R173W; V345I			Hiratsuka et al., 2004
CYP4B1*7		See CYP4B1*2B

Changes made since the last update (13-Nov-2007) 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.

Please contact Dr. Jean-Marc Lo-Guidice for more information about CYP4B1*2, *3, *4 and *5 alleles. 

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