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

Phenotype1

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*351

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*431

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).