CYP2C8 allele nomenclature

Allele	Protein	Nucleotide changes, cDNA* *Position 1497 should read C	Nucleotide changes, Gene	Effect	Enzyme activity		References
					In_vivo	In_vitro
CYP2C8*1A	CYP2C8.1	None			Normal	Normal	Klose et al., 1999
CYP2C8*1B	CYP2C8.1		-271C>A				Bahadur et al., 2002
CYP2C8*1C	CYP2C8.1		-370T>G				Bahadur et al., 2002
CYP2C8*2	CYP2C8.2	805A>T	1675C>T; 2010G>A; 2040_2041insT; 11054A>T; 26562T>A; 32299C>T	I269F		Decreased	Dai et al., 2001 Gao et al., 2010
CYP2C8*3	CYP2C8.3	416G>A; 1196A>G	1675C>T; 2010G>A; 2130G>A;  26562T>A; 30411A>G; 32299C>T	R139K; K399R		Decreased	Dai et al., 2001 Gao et al., 2010
CYP2C8*4	CYP2C8.4	792C>G	11041C>G	I264M		Decreased	Bahadur et al., 2002 Gao et al., 2010 Jian et al., 2011
CYP2C8*5		475delA	2189delA	159Frameshift	None		Soyama et al., 2002
CYP2C8*6	CYP2C8.6	511G>A	4472G>A	G171S		Unchanged	Hichiya et al., 2005
CYP2C8*7		556C>T	4517C>T	R186X		None	Hichiya et al., 2005
CYP2C8*8	CYP2C8.8	556C>G	4517C>G	R186G		Decreased	Hichiya et al., 2005
CYP2C8*9	CYP2C8.9	740A>G	10989A>G	K247R		Unchanged	Hichiya et al., 2005
CYP2C8*10	CYP2C8.10	1149G>T	26513G>T	K383N		Unchanged	Hichiya et al., 2005
CYP2C8*11		820G>T	23452G>T	E274X		None	Yeo et al., 2011
CYP2C8*12	CYP2C8.12	1382_1384delTTG	32184_32186delTTG	461delV			Saito et al., 2007
CYP2C8*13	CYP2C8.13	669T>G	10918T>G	I223M		Unchanged	Nakajima et al., 2006 Hanioka et al., 2010
CYP2C8*14	CYP2C8.14	712G>C	10961G>C	A238P		Decreased	Nakajima et al., 2006 Hanioka et al., 2010

Changes made since the last update (30-Nov-2011) are marked in red.

Allele frequencies: Solus et al., 2004

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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