UGT1A1 and common exons allele nomenclature (view change log)

UGT1A common exons (2-5) SNPs are highlighted in grey.

Allele naming	Protein	Nucleotide Change Reference sequence : AF297093	Amino Acid Change	Exon	Effect	Phenotype^1	Enzyme activity		Genbank	Reference	Notes
							In vivo	In vitro
UGT1A1*1	UGT1A1.1				Wild-type					Ritter JK,.
UGT1A1*2	UGT1A1.2	877(T>A)/878-890del	Frameshift/Del	2	Frameshift	CN1	Absent	Absent		Ritter JK, Sappal BS,
UGT1A1*3	UGT1A1.3	1124(C>T)	S375F	4		CN1	Inactive	Inactive		Bosma PJ,
UGT1A1*4	UGT1A1.4	1069(C>T)	Q357X	3		CN1	Inactive	Inactive		Bosma PJ,
UGT1A1*5	UGT1A1.5	991(C>T)	Q331X	2	Exon 2 deletion	CN1	Absent	Inactive		Bosma PJ,
UGT1A1*6	UGT1A1.6	211(G>A)	G71R	1			Reduced	Reduced		Aono S,
UGT1A1*7	UGT1A1.7	1456(T>G)	Y486D	5		CN2	Reduced	Reduced		Aono S,
UGT1A1*8	UGT1A1.8	625(C>T)	R209W	1		CN2	4.4%	Reduced		Bosma PJ; Huang CS,
UGT1A1*9	UGT1A1.9	992(A>G)	Q331R	2		CN2	Reduced	Reduced		Moghrabi N,
UGT1A1*10	UGT1A1.10	1021(C>T)	R341X	3		CN1	Absent	Absent		Moghrabi N,
UGT1A1*11	UGT1A1.11	923(G>A)	G308E	2		CN1	Inactive	Absent		Erps LT, Labrune P,
UGT1A1*12	UGT1A1.12	524(T>A)	L175Q	1		CN2	38.4%	Reduced		Seppen J,
UGT1A1*13	UGT1A1.13	508-510del	F170del	1		CN1	Inactive	Inactive		Ritter JK,
UGT1A1*14	UGT1A1.14	826(G>C)	G276R	1		CN1	Inactive	Inactive		Seppen J,
UGT1A1*15	UGT1A1.15	529(T>C)	C177R	1		CN1	Inactive	Inactive		Seppen J,
UGT1A1*16	UGT1A1.16	1070(A>G)	Q357R	3		CN1	Absent	Absent		Labrune P,
UGT1A1*17	UGT1A1.17	1143(C>G)	S381R	4		CN1	Absent	Absent		Labrune P,
UGT1A1*18	UGT1A1.18	1201(G>C)	A401P	4		CN1	Absent	Absent		Labrune P,
UGT1A1*19	UGT1A1.19	1005(G>A)	W335X	3		CN1	Absent	Absent		Labrune P,
UGT1A1*20	UGT1A1.20	1102(G>A)	A368T	4		CN1	Absent	Absent		Labrune P,
UGT1A1*21	UGT1A1.21	1223insG	Frameshift	4	Frameshift	CN1	Absent	Absent		Labrune P,
UGT1A1*22	UGT1A1.22	872(C>T)	A291V	2		CN1	Absent	Absent		Labrune P,
UGT1A1*23	UGT1A1.23	1282(A>G)	K426E	4		CN1	Absent	Absent		Labrune P,
UGT1A1*24	UGT1A1.24	1309(A>T)	K437X	5		CN1	Absent	Absent		Labrune P,
UGT1A1*25	UGT1A1.25	840(C>A)	C280X	1		CN1	Absent	Absent		Aono S,
UGT1A1*26	UGT1A1.26	973delG	Frameshift	2	Frameshift	CN2	Absent	Absent		Seppen J,
UGT1A1*27	UGT1A1.27	686(C>A)	P229Q	1		Gilbert	Reduced	Reduced		Aono S.
UGT1A1*28	UGT1A1.28	A(TA)6TAA to A(TA)7TAA		Promoter		Gilbert	Reduced	Reduced		Bosma PJ,	UGT1A1 TATA box
UGT1A1*29	UGT1A1.29	1099(C>G)	R367G	4		Gilbert	Reduced	Reduced		Aono S.
UGT1A1*30	UGT1A1.30	44(T>G)	L15R	1		CN2	Reduced	Reduced		Seppen J,
UGT1A1*31	UGT1A1.31	1160(CC>GT)	P387R	4		CN1	Absent	Absent		Ciotti M,
UGT1A1*32	UGT1A1.32	1006(C>T)	R336W	3		CN1	0-10%	Absent		Ciotti M,
UGT1A1*33	UGT1A1.33	881(T>C)	I294T	2		CN2	40-55%			Ciotti M,
UGT1A1*34	UGT1A1.34	928(A>G)	M310V	2		CN2	26%-51%			Ciotti M,
UGT1A1*35^1	UGT1A1.35	1292(T>C)	I431T	4		CN2	61%-81%			Ciotti M,
UGT1A1*36	UGT1A1.36	A(TA)6TAA to A(TA)5TAA		Promoter			Increased	Increased		Beutler E,
UGT1A1*37	UGT1A1.37	A(TA)6TAA to A(TA)8TAA		Promoter		CN2	Reduced	Reduced		Beutler E,
UGT1A1*38	UGT1A1.38	1213(A>G)/ A(TA)6TAA to A(TA)8TAA	N400D	4		CN2				Labrune P,	Originally designated UGT1A1*64
UGT1A1*39	UGT1A1.39	1201(G>C)/1309(A>T)	A401P/K437X	4; 5		CN1				Labrune P,
UGT1A1*40	UGT1A1.40	872(C>T)/1282(A>G)	A291V/K426E	2; 4		CN1				Labrune P,
UGT1A1*41	UGT1A1.41	120-121delCT	Frameshift	1	Frameshift	CN1				Ciotti M,
UGT1A1*42	UGT1A1.42	1388(A>C)/N A(TA)7TAA	E463A	5		CN2				Chalasani N,
UGT1A1*43^1	UGT1A1.43	698(T>G)	L233R	1		-				Gagne JF,	Originally designated UGT1A1*35
UGT1A1*44	UGT1A1.44	115(C>G)	H39D	1		CN1				Kadakol A,
UGT1A1*45	UGT1A1.45	222(C>A)	Y74X	1		CN1				Kadakol A,
UGT1A1*46	UGT1A1.46	517delC	Frameshift	1	Frameshift	CN1				Kadakol A,
UGT1A1*47	UGT1A1.47	722-723delAG	Frameshift	1	Frameshift	CN1				Kadakol A,
UGT1A1*48	UGT1A1.48	674(T>G)/722-723delAG	V225G/Frameshift	1	Frameshift	CN2				Kadakol A,
UGT1A1*49	UGT1A1.49	1043delA	Frameshift	3	Frameshift	CN1				Kadakol A,
UGT1A1*50	UGT1A1.50	1220delA/N	Frameshift/N	4	Frameshift	CN1				Kadakol A,
UGT1A1*51	UGT1A1.51	1127(A>G)/N	H376R/N	4		CN2				Kadakol A,
UGT1A1*52	UGT1A1.52	1130(G>T)	G377V	4		CN2				Kadakol A,
UGT1A1*53	UGT1A1.53	1448(G>A)	W483X	5		CN1				Kadakol A,
UGT1A1*54	UGT1A1.54	1449(G>A)	W483X	5		CN1				Kadakol A,
UGT1A1*55	UGT1A1.55	1487(T>A)/N	L496X/N	5		CN1				Kadakol A,
UGT1A1*56	UGT1A1.56	Splice acceptor site	Intron 1	Intron 1		CN1				Gantla S,
UGT1A1*57	UGT1A1.57	Splice donor site	Intron 3	Intron 3		CN1				Gantla S,
UGT1A1*58	UGT1A1.58	145(C>T)	Q49X	1		CN1				Gantla S,
UGT1A1*59	UGT1A1.59	1186delG	Frameshift	4	Frameshift	CN2				Huang CS,
UGT1A1*60	UGT1A1.60	-3279(T>G)		Promoter		Gilbert				Sugatani J,	Referred to -3263(T>G)
UGT1A1*61	UGT1A1.61	Splice donor site (G>A)	Intron 3	Intron 3		CN1				Sappal BS,
UGT1A1*62	UGT1A1.62	247(T>C)	F83L	1		Gilbert				Sutomo R,
UGT1A1*63	UGT1A1.63	1091(C>T)	P364L	4		-	Reduced	-		Huang CS.
UGT1A1*64	UGT1A1.64	488-491dupACCT	Frameshift	1	Frameshift	Gilbert	Reduced	-		Costa E.
UGT1A1*65	UGT1A1.65	-1126(C>T)		Promoter		Gilbert	-	-		Costa E.
UGT1A1*66	UGT1A1.66	997-82(T>C)		Intron 2		Gilbert	-	-		Costa E.
UGT1A1*67	UGT1A1.67	-85 to -83 ins CAT		Promoter		Gilbert	Reduced	Reduced		Farheen S.
UGT1A1*68	UGT1A1.68	-63(G>C)		Promoter		Gilbert	Normal	-		Farheen S.
UGT1A1*69	UGT1A1.69	476(T>C)	I159T	1		Gilbert	Normal	-		Farheen S.
UGT1A1*70	UGT1A1.70	962(C>G)	A321G	2		Gilbert	Normal	-		Farheen S.
UGT1A1*71	UGT1A1.71	964(A>G)	I322V	2		-	Normal	-		Farheen S.
UGT1A1*72	UGT1A1.72	1075(G>A)	D359N	3		Gilbert	Normal	-		Farheen S.
UGT1A1*73	UGT1A1.73	1091(C>T)	P364L	4		Gilbert	Normal	-		Farheen S.
UGT1A1*74	UGT1A1.74	-3345 delC		Promoter		-	-	-		Sai K.
UGT1A1*75	UGT1A1.75	1598(A>C)	H533P	5		-	-	-		Sai K.
UGT1A1*76	UGT1A1.76	1813(C>T)		3’UTR		-	-	-		Sai K.
UGT1A1*77	UGT1A1.77	2021(T>C)		3’UTR		-	-	-		Sai K.
UGT1A1*78	UGT1A1.78	1941(C>G)		3’UTR		-	-	-		Sai K.
UGT1A1*79	UGT1A1.79	2042 (C>G)		3’UTR		-	-	-		Sai K.
UGT1A1*80	UGT1A1.80	-364(C>T)		Promoter		-	-	-		Sai K.
UGT1A1*81	UGT1A1.81	-64(G>C)		Promoter		-	-	-		Sai K.
UGT1A1*82	UGT1A1.82	IVS1-72 (T>G)		Intron 1		-	-	-		Sai K.
UGT1A1*83	UGT1A1.83	IVS1-52 (T>C)		Intron 1		-	-	-		Sai K.
UGT1A1*84	UGT1A1.84	IVS2+18 (C>T)		Intron 2		-	-	-		Sai K.
UGT1A1*85	UGT1A1.85	IVS4-229 (A>C)		Intron 4		-	-	-		Sai K.
UGT1A1*86	UGT1A1.86	IVS1-157 (C>A)		Intron 1		-	-	-		Sai K.
UGT1A1*87	UGT1A1.87	IVS2+15 (T>C)		Intron 2		-	-	-		Sai K.
UGT1A1*88	UGT1A1.88	IVS2-82 (T>C)		Intron 2		-	-	-		Sai K.
UGT1A1*89	UGT1A1.89	-3440 (C>A)		Promoter		-	-	-		Innocenti F.
UGT1A1*90	UGT1A1.90	-3401 (T>C)		Promoter		-	-	-		Innocenti F..
UGT1A1*91	UGT1A1.91	-3177 (C>G)		Promoter		-	-	-		Innocenti F.
UGT1A1*92	UGT1A1.92	-3175 (A>G)		Promoter		-	-	-		Innocenti F.
UGT1A1*93	UGT1A1.93	-3156 (G>A)		Promoter		-	-	-		Innocenti F.
UGT1A1*94	UGT1A1.94	1381 (T>C)	W461R	5		CN1	-	No detectable activity		Maruo Y.
UGT1A1*95	UGT1A1.95	1007(G>A)	R336Q	3		CN1	-	-		Servedio V.
UGT1A1*96	UGT1A1.96	1007(G>T)	R336L	3		CN1	-	-		Servedio V.
UGT1A1*97	UGT1A1.97	1184(G>T)	G395V	4		CN1	-	-		Servedio V.
UGT1A1*98	UGT1A1.98	1159(C>T)	P387S	4		CN1	-	-		Servedio V.
UGT1A1*99	UGT1A1.99	801delC	Frameshift	1	Frameshift	CN1	-	-		Servedio V.
UGT1A1*100	UGT1A1.100	576(C>G)	Y192X	1		CN1	-	-		Servedio V.
UGT1A1*101	UGT1A1.101	1060(T>C)	W354R	3		CN2	-	-		Servedio V.
UGT1A1*102	UGT1A1.102	111(C>A)	P34Q	1		CN2	-	-		Servedio V.	Referred to 101
UGT1A1*103	UGT1A1.103	1207(C>T)	R403C	4		CN2	-	-		Servedio V.
UGT1A1*104	UGT1A1.104	IVS1-1 (G>A)		Intron 1		CN2	-	-		Servedio V.	Referred to 865(-1G>A)
UGT1A1*105	UGT1A1.105	IVS4+1 (G>T)		Intron 4		CN2	-	-		Servedio V.	Referred to 1304(+1G>T)
UGT1A1*106	UGT1A1.106	1433(C>A)	A478D	5		CN2	-	-		Servedio V.
UGT1A1*107	UGT1A1.107	118(T>C)	W40R	1		CN2	-	-		Petit F.
UGT1A1*108	UGT1A1.108	396-401del CAACAA	H132Q ; N133_K134del	1		CN2	-	-		Petit F.	Referred to 397-402 del CAACAA
UGT1A1*109	UGT1A1.109	554(A>C)	Q185P	1		CN2	-	-		Petit F.
UGT1A1*110	UGT1A1.110	1(A>G)		1		CN2	-	-		Petit F.
UGT1A1*111	UGT1A1.111	470insT	Frameshift	1	Frameshift	CN2	Inactive	-		Rosatelli MC.
UGT1A1*112	UGT1A1.112	-1353(C>A)		Promoter		-	-	Reduced		Ueyama H.
UGT1A1*113	UGT1A1.113	1477(G>C)	G493R	5		CN2	-	-		Yusoff S
Reported haplotypes
		-3345 delC		Promoter						Sai K.
		211(G>A) / 378(C>T)	G71R / G126G	1						Sai K.
		211(G>A) / 420 (G>A)	G71R / L140L	1						Sai K.
		-3279 (T>G) / -3158 (G>A) / -364 (C>T) / -40 insTA		Promoter						Sai K.
		-3279 (T>G) / -3158 (G>A) / -364 (C>T) / -40 insTA / 686 (C>A)	P229Q	Promoter / exon 1						Sai K.
		-364 (C>T) / -40 insTA		Promoter						Sai K.
		-3279 (T>G)		Promoter						Sai K.
		-3279 (T>G) / -64 (G>C)		Promoter						Sai K.
		-3279 (T>G) / -3177 (C>G) / -3175 (A>G) / -64 (G>C)		Promoter						Sai K.
		IVS1-72 (T>G)		Intron 1						Sai K.
		IVS1-157 (C>A)		Intron 1						Sai K.
		IVS2+15 (T>C)		Intron 2						Sai K.
		IVS2-82 (T>C)		Intron 2						Sai K.
		IVS4-229 (A>C)		Intron 4						Sai K.
		IVS1-72 (T>G)		Intron 1						Sai K.
		2021 (T>C)		3’UTR						Sai K.
		IVS1-157 (C>A) / IVS2+15 (T>C)		Intron 1 / Intron 2						Sai K.
		1091(C>T)	P364L	4						Huang CS.
		1813 (C>T) / 1941(C>G) / 2042 (C>G)		3’UTR						Sai K.
		IVS2+15 (T>C)/ 1813 (C>T) / 1941(C>G) / 2042 (C>G)		Intron 2 / 3’UTR						Sai K.
		IVS1-52 (T>C) / 1813 (C>T) / 1941(C>G) / 2042 (C>G)		Intron 1 / 3’UTR						Sai K.
		IVS2+18 (C>T) / IVS2-82 (T>C) / 1813 (C>T) / 1941(C>G) / 2042 (C>G)		Intron 2 / 3’UTR						Sai K.
		1598(A>C) / 1813 (C>T) / 1941(C>G) / 2042 (C>G)	H533P	Exon 5 / 3’UTR						Sai K.
		211 (G>A)		Exon 1						Kaniwa N.
		-3279 (T>G) / 211 (G>A)		Promoter / Exon 1						Kaniwa N.
		-3279 (T>G) / A(TA)6TAA to A(TA)7TAA		Promoter						Kaniwa N.
		-3279 (T>G) / A(TA)6TAA to A(TA)7TAA / 686 (C>A)		Promoter / Exon 1						Kaniwa N.
		-3279 (T>G) / A(TA)6TAA to A(TA)5TAA		Promoter						Kaniwa N.
		-3279 (T>G) / A(TA)6TAA to A(TA)8TAA		Promoter						Kaniwa N.
		1813(C>T) / 2042 (C>G)		3’UTR						Kaniwa N.
		2042 (C>G)		3’UTR						Kaniwa N.
		1941(C>G) / 2042 (C>G)		3’UTR						Kaniwa N.
		1813(C>T)		3’UTR						Kaniwa N.
		-3156(G>A), A(TA)6TAA to A(TA)7TAA		Promoter		-	-	-		Innocenti F.
		-3177(C>G), -3175(A>G), -3156(G>A), A(TA)6TAA to A(TA)7TAA		Promoter		-	-	-		Innocenti F.

All sequences, when available in the original paper, have been aligned with reference sequences.

¹ Phenotypes :

CN1 = Crigler-Najar syndrome type 1

CN2 = Crigler-Najar syndrome type 2

Gilbert = Gilbert syndrome

Changes made on the last update are in red (2007-09-04).