UGT1A4 allele nomenclature (view change log)

 

Allele naming

Protein

Nucleotide change

Amino acid change

Effect

Enzyme activity

Genbank

References

Notes

In vivo

In vitro

UGT1A4 *1a

UGT1A4.1

Reference sequence (AF297093)

 

Wild-type

 

Normal

Normal

AF297093

 

 

UGT1A4*1b

UGT1A4.1

471(C>T)

C157C

Silent

 

 

 

N/A

Saeki M, 2005

 

UGT1A4*1c

UGT1A4.1

-219(C>T)/-163(G>A)/448(T>C)/804(G>A)/IVS1+43(C>T)

L150L/P268P

 

 

 

 

N/A

Saeki M, 2005

 

UGT1A4*1d

UGT1A4.1

IVS1+101(G>T)

 

 

 

 

 

N/A

Saeki M, 2005

 

UGT1A4*1e

UGT1A4.1

30(G>A)

P10P

Silent

 

 

 

N/A

Saeki M, 2005

 

UGT1A4*1f

UGT1A4.1

357(T>C)

N119N

Silent

 

 

 

N/A

Saeki M, 2005

 

UGT1A4*1g

UGT1A4.1

-217(T>G)

 

 

 

 

 

N/A

Saeki M, 2005

 

UGT1A4*1h

UGT1A4.1

-36(G>A)

 

 

 

 

 

N/A

Saeki M, 2005

 

UGT1A4*1i

UGT1A4.1

IVS1+98(A>G)

 

 

 

 

 

N/A

Saeki M, 2005

 

UGT1A4*2

UGT1A4.2

70(C>A)

P24T

 

 

Substrate-dependent

(Ehmer et al., 2004; Wiener et al., 2004)

N/A

Wiener D, 2004

 

UGT1A4*3a

UGT1A4.3

-219(C>T)/-163(G>A)/142(T>G)

L48V

 

 

 

 

N/A

Wiener D, 2004

 

UGT1A4*3b

UGT1A4.3

142(T>G)

L48V

 

 

 

Low activity

(Ehmer et al. 2004)

N/A

Saeki M, 2005

 

UGT1A4*4

UGT1A4.4

31(C>T)

R11W

 

 

 

 

N/A

Saeki M, 2005

 

UGT1A4*5

UGT1A4.5

127delA/142(T>G)

43fsX22

Frameshift early stop codon

 

 

N/A

Saeki M, 2005

 

UGT1A4*6

UGT1A4.6

175delG/325(A>G)

59fsX6

Frameshift early stop codon

 

 

N/A

Saeki M, 2005

 

UGT1A4*7

UGT1A4.7

-219(C>T)/-163(G>A)/142(T>G)/271(C>T)/448(T>C)/804(G>A)/IVS1+43(C>T)

L48V/R91C/L150L/P268P

 

 

 

 

N/A

Saeki M, 2005

 

UGT1A4*8

UGT1A4.8

IVS1+1(G>T)

 

 

Splicing defect

 

 

N/A

Saeki M, 2005

 

 

N/A : data not available in the manuscript