CYP3A5 allele nomenclature

Allele	Protein__	Nucleotide changes,  Gene* *To be considered CYP3A5*1A, the reference sequence must be changed to 6986A and 31611C.	Trivial name	Effect	Enzyme_activity		References
					In_vivo	In vitro
CYP3A5*1A	CYP3A5.1	None			Normal	Normal	Aoyama et al, 1989
CYP3A5*1B	CYP3A5.1	-86G>A					Kuehl et al, 2001
CYP3A5*1C	CYP3A5.1	-74C>T					Kuehl et al, 2001
CYP3A5*1D	CYP3A5.1	31611C>T					Hustert et al, 2001
CYP3A5*1E	CYP3A5.1	17163G>T					Saeki et al, 2003
CYP3A5*2	CYP3A5.2	27289C>A		T398N			Jounaidi et al, 1996
CYP3A5*3A		6986A>G; 31611C>T		Splicing defect	Decr.	Severely decr.	Kuehl et al, 2001 Wong et al., 2004 Haufroid et al., 2004 Josephson et al., 2007
CYP3A5*3B		3705C>T; 3709_3710insG; 6986A>G; 31611C>T		H30Y; splicing defect		Severely decr.	Hustert et al, 2001
CYP3A5*3C		6986A>G		Splicing defect		Severely decr.	Hustert et al, 2001
CYP3A5*3D		6986A>G; 7249T>G		Splicing defect; L82R		Severely decr.	Lee et al, 2003
CYP3A5*3E		6986A>G; 27050A>G; 31611C>T		Splicing defect		Severely decr.	Lee et al, 2003
CYP3A5*3F		6986A>G; 31551T>C; 31611C>T	*3d	Splicing defect; I488T		Severely decr.	Saeki et al, 2003
CYP3A5*3G		6986A>G; 12952T>C; 31611C>T	*3e	Splicing defect		Severely decr.	Saeki et al, 2003
CYP3A5*3H		6986A>G; 13108T>C; 31611C>T	*3f	Splicing defect		Severely decr.	Saeki et al, 2003
CYP3A5*3I		6986A>G; 16903A>G; 31611C>T	*3g	Splicing defect		Severely decr.	Saeki et al, 2003
CYP3A5*3J		6986A>G; 29782A>G; 31611C>T	*3h	Splicing defect; I456V		Severely decr.	Saeki et al, 2003
CYP3A5*3K		6986A>G; 29753T>C; 31611C>T		Splicing defect; F446S		Decr.	Lee et al, 2003
CYP3A5*3L		3775A>G; 6986A>G		Y53C; splicing defect		Decr.	Lee et al., 2006
CYP3A5*4	CYP3A5.4	14665A>G		Q200R			Chou et al, 2001
CYP3A5*5		12952T>C		Splicing defect			Chou et al, 2001
CYP3A5*6		14690G>A		Splicing defect		None or severely decr.	Kuehl et al, 2001
CYP3A5*7		27131_27132insT		346Frameshift			Hustert et al, 2001
CYP3A5*8	CYP3A5.8	3699C>T		R28C		Decr.	Lee et al, 2003
CYP3A5*9	CYP3A5.9	19386G>A Existence of the CYP3A5*3 polymorphism 6986A>G on the same allele cannot be excluded		A337T		Decr.	Lee et al, 2003
CYP3A5*10	See CYP3A5*3K
CYP3A5*11	see CYP3A5*3L
Additional SNPs, where the haplotype has not yet been determined
		-4336G>A; -3844G>A; -3557T>C; -1617T>C; -795T>A; 173_175delGGA; 5215C>T; 7182C>A; 7424_7427insCTAAAAAAT; 13077T>G; 13173T>C; 16931_16932insGTC; 17163G>T; 19165G>A; 27526C>T					Hustert et al, 2001
		7303C>A		S100Y			Hustert et al, 2001
		16025A>G; 16993C>G; 27448C>A					Saeki et al, 2003
		-15A>C; 3818G>A; 13134C>G; 14720A>G; 31499T>C					Lee et al., 2003
		76G>A; 3578C>T; 5516T>A; 7207C>T; 8124T>G; 8128A>G; 15788T>C; 16079A>C; 16145C>T; 16205C>T; 16333G>T; 16606G>C; 17118C>T; 19739C>G; 20106A>G; 20417T>C; 20440C>T; 20528C>G; 21115T>C; 26997A>G					Solus et al., 2004
		17052C>G		D277E			Solus et al., 2004
		There exists a haplotype with both the characteristic CYP3A5*2 and CYP3A5*3 SNPs, although allele designations of such a haplotype awaits additional gene sequencing.		A yet not fully characterized haplotype of T398N and splicing defect exists			Guo-Avrutin et al. and Pierce et al., personal communication

Changes made since the last update (15-Jan-2008) are marked in red.

Allele frequencies: Xie et al., 2004; Solus et al., 2004; Roy et al., 2005

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

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