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 |
|
Wild-type |
|
|
|
|
||
UGT1A4*1b |
UGT1A4.1 |
471(C>T) |
C157C |
Silent |
|
|
N/A |
|
|
UGT1A4*1c |
UGT1A4.1 |
-219(C>T)/-163(G>A)/448(T>C)/804(G>A)/IVS1+43(C>T) |
L150L/P268P |
|
|
|
N/A |
|
|
UGT1A4*1d |
UGT1A4.1 |
IVS1+101(G>T) |
|
|
|
|
N/A |
|
|
UGT1A4*1e |
UGT1A4.1 |
30(G>A) |
P10P |
Silent |
|
|
N/A |
|
|
UGT1A4*1f |
UGT1A4.1 |
357(T>C) |
N119N |
Silent |
|
|
N/A |
|
|
UGT1A4*1g |
UGT1A4.1 |
-217(T>G) |
|
|
|
|
N/A |
|
|
UGT1A4*1h |
UGT1A4.1 |
-36(G>A) |
|
|
|
|
N/A |
|
|
UGT1A4*1i |
UGT1A4.1 |
IVS1+98(A>G) |
|
|
|
|
N/A |
|
|
UGT1A4*2 |
UGT1A4.2 |
70(C>A) |
P24T |
|
|
Substrate-dependent |
N/A |
|
|
UGT1A4*3a |
UGT1A4.3 |
-219(C>T)/-163(G>A)/142(T>G) |
L48V |
|
|
|
N/A |
|
|
UGT1A4*3b |
UGT1A4.3 |
142(T>G) |
L48V |
|
|
Low
activity |
N/A |
|
|
UGT1A4*4 |
UGT1A4.4 |
31(C>T) |
R11W |
|
|
|
N/A |
|
|
UGT1A4*5 |
UGT1A4.5 |
127delA/142(T>G) |
43fsX22 |
Frameshift
– early stop codon |
|
|
N/A |
|
|
UGT1A4*6 |
UGT1A4.6 |
175delG/325(A>G) |
59fsX6 |
Frameshift
– early stop codon |
|
|
N/A |
|
|
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 |
|
|
UGT1A4*8 |
UGT1A4.8 |
IVS1+1(G>T) |
|
Splicing
defect |
|
|
N/A |
|
N/A : data not available in the manuscript