PDB ID | 1HZJ | CHAIN | A |
---|---|---|---|
Protein name | UDP-GALACTOSE 4-EPIMERASE | ||
Uniprot Accession | Q14376 | ||
The number of similar proteins | 13 | ||
The number of binding states | 2 | ||
The number of binding partners | 1 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
25_ALA | VAL | VAR_037733 |
rs1431772923
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
27_TYR | CYS |
8.3kJPN chr1:24125418 |
rs532648624
|
- | 0.0001 | - | |
34_ASN | SER | VAR_002539 |
rs121908046
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
40_ARG | CYS | VAR_037734 |
rs144492228
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
40_ARG | CYS |
8.3kJPN chr1:24125380 |
rs144492228
|
- | 0.0027 | - | |
51_ARG | GLN |
8.3kJPN chr1:24125190 |
rs758803977
|
- | 0.0001 | - | |
52_VAL | GLY |
gnomAD chr1:24125187 |
rs958522525
|
- | 0.000119717 | - | |
58_ARG | CYS |
gnomAD chr1:24125170 |
rs142821993
|
- | 0.000135819 | - | |
69_ASP | GLU | VAR_037735 |
rs1261697960
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
69_ASP | GLU |
ClinVar chr1:24125135 |
rs1261697960
|
Likely pathogenic | - | UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238] | |
69_ASP | GLU |
8.3kJPN chr1:24125135 |
rs1261697960
|
- | 0.0002 | - | |
75_ARG | HIS |
8.3kJPN chr1:24125118 |
rs779150200
|
- | 0.0001 | - | |
89_ALA | VAL |
gnomAD chr1:24124692 |
rs201437329
|
- | 0.000243103 | - | |
90_GLY | GLU | VAR_002540 |
rs28940882
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
90_GLY | GLU |
ClinVar chr1:24124689 |
rs28940882
|
Pathogenic | - | UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238] | |
90_GLY | ARG |
8.3kJPN chr1:24124690 |
-
|
- | 0.0001 | - | |
94_VAL | MET | VAR_010058 |
rs121908047
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
94_VAL | MET |
ClinVar chr1:24124678 |
rs121908047
|
Pathogenic/Likely pathogenic | - | Galactose epimerase deficiency, severe|UDPglucose-4-epimerase deficiency|not provided|Inborn genetic diseases [MedGen:C4017048|MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238|MedGen:C3661900|MeSH:D030342,MedGen:C0950123] | |
103_ASP | GLY | VAR_002541 |
rs28940883
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
123_GLY | ARG |
8.3kJPN chr1:24124346 |
rs372315186
|
- | 0.0001 | - | |
126_ASN | ASP |
gnomAD chr1:24124337 |
rs771656737
|
- | 0.000246621 | - | |
165_GLU | LYS | VAR_037736 |
rs528467258
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
169_ARG | TRP | VAR_037737 |
rs137853859
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
169_ARG | TRP |
ClinVar chr1:24124208 |
rs137853859
|
Pathogenic/Likely pathogenic | - | UDPglucose-4-epimerase deficiency|not provided|See cases [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238|MedGen:C3661900|] | |
169_ARG | TRP |
8.3kJPN chr1:24124208 |
rs137853859
|
- | 0.0003 | - | |
173_GLN | LYS |
8.3kJPN chr1:24124196 |
-
|
- | 0.0001 | - | |
178_TRP | TER |
ClinVar chr1:24123632 |
-
|
Pathogenic | - | UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238] | |
183_LEU | PRO | VAR_002543 |
rs121908045
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
183_LEU | PRO |
ClinVar chr1:24123618 |
rs121908045
|
Pathogenic | - | UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238] | |
185_TYR | CYS |
8.3kJPN chr1:24123612 |
rs533469192
|
- | 0.0001 | - | |
204_ILE | THR |
gnomAD chr1:24123555 |
rs143924570
|
- | 0.000111968 | - | |
219_ARG | TER |
ClinVar chr1:24123420 |
-
|
Pathogenic | - | UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238] | |
239_ARG | TRP | VAR_037738 |
rs137853860
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
239_ARG | TRP |
ClinVar chr1:24123267 |
rs137853860
|
Pathogenic/Likely pathogenic | - | UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238] | |
239_ARG | TRP |
8.3kJPN chr1:24123267 |
rs137853860
|
- | 0.0001 | - | |
245_VAL | MET |
8.3kJPN chr1:24123249 |
rs145762332
|
- | 0.0001 | - | |
252_ILE | THR |
8.3kJPN chr1:24123227 |
rs148834880
|
- | 0.0001 | - | |
257_LYS | ARG | VAR_002544 |
rs28940884
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
257_LYS | ARG |
gnomAD chr1:24123212 |
rs28940884
|
- | 0.0014097 | - | |
281_VAL | ILE |
8.3kJPN chr1:24123031 |
rs1166093458
|
- | 0.0001 | - | |
300_ARG | TRP |
8.3kJPN chr1:24122731 |
rs727503942
|
- | 0.0002 | - | |
302_GLY | ASP | VAR_037739 |
rs137853861
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
302_GLY | ASP |
ClinVar chr1:24122724 |
rs137853861
|
Likely pathogenic | - | UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238] | |
302_GLY | ASP |
8.3kJPN chr1:24122724 |
rs137853861
|
- | 0.0007 | - | |
308_TYR | CYS |
gnomAD chr1:24122706 |
rs780393850
|
- | 0.000107457 | - | |
313_LEU | MET | VAR_002545 |
rs3180383
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
313_LEU | MET |
ClinVar chr1:24122692 |
rs3180383
|
Pathogenic | - | UDPglucose-4-epimerase deficiency [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238] | |
319_GLY | GLU | VAR_002546 |
rs28940885
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
319_GLY | GLU |
gnomAD chr1:24122673 |
rs28940885
|
- | 0.000354189 | - | |
319_GLY | ARG |
8.3kJPN chr1:24122674 |
-
|
- | 0.0002 | - | |
320_TRP | GLY |
8.3kJPN chr1:24122671 |
-
|
- | 0.0006 | - | |
333_LEU | ILE |
gnomAD chr1:24122489 |
rs199614710
|
- | 0.000175328 | - | |
335_ARG | HIS | VAR_037740 |
rs368637540
|
LP/P | - | Galactosemia 3 (GALAC3) [MIM:230350] | |
335_ARG | HIS |
ClinVar chr1:24122482 |
-
|
Likely pathogenic | - | UDPglucose-4-epimerase deficiency|GALE-related condition [MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238|] | |
335_ARG | HIS |
8.3kJPN chr1:24122482 |
rs368637540
|
- | 0.0002 | - | |
346_THR | MET |
8.3kJPN chr1:24122449 |
rs367879744
|
- | 0.0001 | - |