UGT2B4
allele nomenclature (view change log)
Allele naming |
Protein |
Nucleotide change |
Amino acid change |
Effect |
Enzyme activity |
Genbank |
Reference |
Notes |
|
In vivo |
In vitro |
||||||||
UGT2B4*1a |
UGT2B4.1 |
|
|
Wild-type |
Normal |
Normal |
|
||
UGT2B4*1b |
UGT2B4.1 |
IVS4+61(T>C) |
|
|
|
|
N/A |
|
|
UGT2B4*1c |
UGT2B4.1 |
-1255(A>C)/-162(T>G)/IVS4+61(T>C) |
|
|
|
|
N/A |
|
|
UGT2B4*1d |
UGT2B4.1 |
IVS4+161_162(ins
TGATAA)/1212(A>T) |
A404A |
Silent |
|
|
N/A |
|
|
UGT2B4*1e |
UGT2B4.1 |
-1255(A>C)/-162(T>G)/IVS3-13_6(delT)/IVS5-83(G>C) |
|
|
|
|
N/A |
|
|
UGT2B4*1f |
UGT2B4.1 |
IVS4+61(T>C)/IVS4+146(G>A) |
|
|
|
|
N/A |
|
|
UGT2B4*1g |
UGT2B4.1 |
-1255(A>C)/-162(T>G)/IVS4+61(T>C)/
IVS4+146(G>A) |
|
|
|
|
N/A |
|
|
UGT2B4*1h |
UGT2B4.1 |
-162(T>G)/IVS4+61(T>C) |
|
|
|
|
N/A |
|
|
UGT2B4*1j |
UGT2B4.1 |
IVS4+145(C>T)/IVS4+161_162(ins
TGATAA) |
|
|
|
|
N/A |
|
|
UGT2B4*1k |
UGT2B4.1 |
-1255(A>C)/-162(T>G)/IVS4+161_162(ins
TGATAA) |
|
|
|
|
N/A |
|
|
UGT2B4*1l |
UGT2B4.1 |
-1255(A>C)/-162(T>G)/IVS5-83(G>C) |
|
|
|
|
N/A |
|
|
UGT2B4*1m |
UGT2B4.1 |
-1255(A>C)/-162(T>G)/IVS3-13_6(delT) |
|
|
|
|
N/A |
|
|
UGT2B4*1n |
UGT2B4.1 |
-162(T>G)/IVS4+146(G>A)/IVS4+161_162(ins
TGATAA)/Exon5+1212(A>T) |
A404A |
Silent |
|
|
N/A |
|
|
UGT2B4*1p |
UGT2B4.1 |
IVS4+145(C>T)/IVS4+161_162(ins
TGATAA)/1212(A>T) |
A404A |
Silent |
|
|
N/A |
|
|
UGT2B4*1q |
UGT2B4.1 |
1212(A>T)/IVS5-83(G>C) |
A404A |
Silent |
|
|
N/A |
|
|
UGT2B4*1r |
UGT2B4.1 |
IVS4+161_162(ins
TGATAA) |
|
|
|
|
NT_077444.2 |
Renamed
from UGT1A6*1a |
|
UGT2B4*1s |
UGT2B4.1 |
IVS5-83(G>C) |
|
|
|
|
N/A |
Renamed
from UGT1A6*1i2 |
|
UGT2B4*1t |
UGT2B4.1 |
IVS2+44(C>T)/IVS4+61(T>C) |
|
|
|
|
N/A |
Renamed
from UGT1A6*1o2 |
|
UGT2B4*2a |
UGT2B4.2 |
1374(T>A)/1375(C>A) |
D458E |
|
Normal |
|
|
||
UGT2B4*2b |
UGT2B4.2 |
-1255(A>C)/-162(T>G)/IVS4+61(T>C)/IVS4+109_114(delATAAAA)/IVS5-52(C>T)/1374(T>A)/1375(C>A) |
D458E/R459R |
|
|
|
N/A |
Renamed
from UGT2B4*2a |
|
UGT2B4*3 |
UGT2B4.3 |
325(T>C)/1186(T>C) |
F109L/F369L |
|
No activity with hyodeoxycholic acid |
|
Formerly
UGT2B11 |
||
UGT2B4*4 |
UGT2B4.4 |
IVS4+162_163(ins
TGATAA)/1364(A>G) |
K455R |
|
|
|
N/A |
Named *455R by the author |
|
UGT2B4*5 |
UGT2B4.5 |
IVS4+162_163(ins
TGATAA)/1212(A>T)/1531(T>C) |
A404A/C511R |
|
|
|
N/A |
Named *511R by the author |
|
UGT2B4*6 |
UGT2B4.6 |
1372(G>C)/1374(T>A) |
D458Q |
|
|
|
N/A |
|
1 Y00317 has been resequenced and shown to be
identical to AJ005162.
See the Levesque
et al paper or the alignment for
details.
2 Alleles were renamed since the letters “i” and
“o” are excluded in the UGT Allele Nomenclature because of indexing problems.
N/A : data not available in the manuscript