CYP5A1 allele nomenclature

*Allele*	*Protein__*	Nucleotide changes, cDNA	*Effect*	*Enzyme activity*		*References________*
*Allele*	*Protein__*	Nucleotide changes, cDNA	*Effect*	*In_vivo*	*In_vitro*	*References________*
CYP5A11A*	CYP5A1.1	None		Normal	Normal	Miyata et al, 1994
CYP5A11B*	CYP5A1.1	360G>A				Chevalier et al, 2001
CYP5A11C*	CYP5A1.1	1425C>T				Chevalier et al, 2001
CYP5A11D*	CYP5A1.1	1727A>G (outside area of reference sequence)				Chevalier et al, 2001
CYP5A12*	CYP5A1.2	182G>A	R61H			Chevalier et al, 2001
CYP5A13*	CYP5A1.3	483C>A	D161E			Chevalier et al, 2001
CYP5A14*	CYP5A1.4	737A>G	N246S			Chevalier et al, 2001
CYP5A15*	CYP5A1.5	1069C>G	L357V			Chevalier et al, 2001
CYP5A16*	CYP5A1.6	1249C>G	Q417E			Chevalier et al, 2001
CYP5A17*	CYP5A1.7	1348G>A	E450K			Chevalier et al, 2001
CYP5A18*	CYP5A1.8	1352C>A	T451N			Chevalier et al, 2001
CYP5A19*	CYP5A1.9	1397G>A	R466Q			Chevalier et al, 2001
Additional SNPs, where the haplotype has not yet been determined
		373G>A	V125I			NCBI dbSNP
		772A>G	K258E			NCBI dbSNP
		781A>G	R261G			NCBI dbSNP
		849C>A	Q317K			NCBI dbSNP
		995T>C	I332T			NCBI dbSNP
		1162G>A	E388K			NCBI dbSNP
		1169G>T	G390V			NCBI dbSNP
		1273C>T	R425C			NCBI dbSNP
		1282G>T	A428T			NCBI dbSNP
		1288G>A	A430T			NCBI dbSNP

Changes made since the last update (27-Mar-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.