UGT2B7 allele nomenclature (view change log)

Reference sequence for SNPs in the promoter: NT_077444 Homo sapiens chromosome 4 genomic contig, reference assembly

Allele naming	Protein	Nucleotide change	Amino acid change	Effect	Enzyme activity		Genbank	Reference	Notes
					In vivo	In vitro
UGT2B7*1a	UGT2B7.1	-1306G/-1299C/-1112 C /-900A/-327G/-161C		Wild-type	Normal	Normal	J05428	Ritter JK et al Holthe et al.	There is a C at position 802. In the initial report by Ritter et al., the promoter region was not sequenced. It was later published that the UGT2B7*1 allele is in complete linkage with several promoter polymorphisms (Holthe et al. ; Duguay et al.). To date, two numbering systems have been used in the literature to described UGT2B7 promoter variants: The first one is relative to the hepatic transcription start site as +1 and the second is relative to the ATG, A as +1. The nomenclature committee recommend using the A of the ATG as +1. In the manuscript by Holthe et al., the authors used the hepatic transcription start site as +1. Thus, the -1306 is identified as -1248 by Holthe et al., -1299 =  -1241, -1054 = -1112, -842 = -900, -327 =  -268, -161 = -102.
UGT2B7*1b	UGT2B7.1	-125C					NT 030640.1	Duguay et al. Saeki et al.	There is a C at position 802.
UGT2B7*1c	UGT2B7.1	735G/Exon4+1062T	T^245T/Y^354Y	Silent			N/A	Saeki et al.	There is a C at position 802.
UGT2B7*1d	UGT2B7.1	372G	R^124R	Silent			N/A	Saeki et al.	There is a C at position 802.
UGT2B7*1e	UGT2B7.1	IVS4+185A					N/A	Saeki et al.	There is a C at position 802. Renamed from UGT2B7*1a
UGT2B7*1f	UGT2B7.1	IVS3-116G/1059C/ IVS4+64A/IVS4+154-155(ins A)/IVS4-154C/IVS4-129C	L^353L	Silent			N/A	Saeki et al.	There is a C at position 802.
UGT2B7*1g	UGT2B7.1	735G/IVS3-116G/IVS3-114 A/1059C/IVS4+64A/IVS4+154-155(ins A)/IVS4-154C/IVS4-129C	T^245T/L^353L	Silent			N/A	Saeki et al.	There is a C at position 802.
UGT2B7*1j^1	UGT2B7.1	-1306G/-1299C/-1112C/ -900A/-327G/-161C /735G/1062T	T^245T/Y^354Y	Silent			N/A	Holthe et al.	There is a C at position 802. -1306 is identified as -1248 by the authors, -1299 = -1241, -1112 = -1054, -842 = -900, -327 = -268, -161 = -102. The authors used the transcription start site as +1.
UGT2B7*1k^1	UGT2B7.1	-1306G/-1299C/-1112C/ -900A/-327G/-161C /372G					N/A	Holthe et al.	There is a C at position 802. -1306 is identified as -1248 by the authors, -1299 = -1241, -1054 = -1112, -842 = -900, -327 = -268, -161 = -102. The authors used the transcription start site as +1.
UGT2B7*2a	UGT2B7.2	802T	H^268Y				N/A	Jin C et al	h-2, Hlug6
UGT2B7*2b	UGT2B7.2	-327A/-161T/801A /802T/IVS2+115G/IVS2+148G/IVS3-116G/1059C /IVS4+64A/IVS4+154-155(ins A)/IVS4-154C/IVS4-129C	P^267P/H^268Y/L^353L				N/A	Saeki et al.
UGT2B7*2c	UGT2B7.2	-327A/-161T/801A /802T/IVS2+115G/IVS2+148G/IVS4+185A	P^267P/H^268Y				N/A	Saeki et al.
UGT2B7*2d	UGT2B7.2	-327A/-161T/801A/ 802T/IVS2+115G/IVS2+148G/915A/IVS3-116(A>G )/IVS3-114A/1059C /IVS4+64A/IVS4+154-155(ins A)/IVS4-154C/IVS4-129C	P^267P/H^268Y/V^305V/L^353L				N/A	Saeki et al.
UGT2B7*2e^1	UGT2B7.2	801A/802T/1059C	H^268Y				N/A	Holthe et al.
UGT2B7*2f	UGT2B7.2	-327A/-161T/801A/ 802T/IVS2+115G/IVS2+148G/IVS3-116G/IVS3-114 A/1059C/IVS4+64A/IVS4+154-155(ins A)/IVS4-154C/IVS4-129C	P^267P/H^268Y/L^353L				N/A	Saeki et al.	Renamed from UGT2B7*2a
UGT2B7*2g	UGT2B7.2	-138A/802T	H^268Y			Luciferase activiy decreased (Duguay et al.)	N/A	Duguay et al.	-138 is identified as -79 by the authors since they used the transcription start site as +1.
UGT2B7*3	UGT2B7.3	211T/372G	A^71S/R^124R				N/A	Saeki et al.	Named *71S by the author
UGT2B7*4	UGT2B7.4	735G/1062T/1192A	T^245T/Y^354Y/D^398N				N/A	Saeki et al.	Named *398N by the author

N/A : data not available in the manuscript

¹ The position of the polymorphisms in the coding region are based on Saeki et al.