PDB ID | 2FYB | CHAIN | A |
---|---|---|---|
Protein name | Beta-1,4-galactosyltransferase 1 | ||
Uniprot Accession | P15291 | ||
The number of similar proteins | 27 | ||
The number of binding states | 4 | ||
The number of binding partners | 2 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
130_CYS | TYR |
8.3kJPN chr9:33166779 |
-
|
- | 0.0001 | - | |
131_PRO | LEU |
gnomAD chr9:33166776 |
rs150774756
|
- | 0.000103712 | - | |
154_VAL | MET |
8.3kJPN chr9:33135375 |
rs750518389
|
- | 0.0001 | - | |
160_ASN | ASP |
8.3kJPN chr9:33135357 |
rs774489888
|
- | 0.0002 | - | |
166_ARG | CYS |
8.3kJPN chr9:33135339 |
rs770241599
|
- | 0.0001 | - | |
171_ASP | GLU |
gnomAD chr9:33135322 |
rs146996656
|
- | 0.000135204 | - | |
174_SER | CYS |
8.3kJPN chr9:33135314 |
-
|
- | 0.0001 | - | |
185_ARG | CYS |
8.3kJPN chr9:33135282 |
rs142441831
|
- | 0.0001 | - | |
193_TYR | TER |
ClinVar chr9:33135256 |
rs1840249855
|
Pathogenic | - | B4GALT1-congenital disorder of glycosylation [MONDO:MONDO:0011772,MedGen:C2931009,OMIM:607091,Orphanet:79332] | |
217_ALA | VAL |
8.3kJPN chr9:33120603 |
rs780815290
|
- | 0.0016 | - | |
234_GLU | LYS |
8.3kJPN chr9:33120553 |
-
|
- | 0.0001 | - | |
253_PRO | ALA |
gnomAD chr9:33120496 |
rs201417912
|
- | 0.000103395 | - | |
257_HIS | ARG | VAR_054020 |
rs9169
|
LB/B | - | - | |
257_HIS | ARG |
gnomAD chr9:33120483 |
rs9169
|
- | 0.000401622 | - | |
264_SER | ALA |
8.3kJPN chr9:33120463 |
rs755251855
|
- | 0.0001 | - | |
298_LEU | VAL |
gnomAD chr9:33116056 |
rs150249236
|
- | 0.000111357 | - | |
301_ASN | SER |
8.3kJPN chr9:33116046 |
rs376696269
|
- | 0.0001 | - | |
329_SER | ALA |
8.3kJPN chr9:33113851 |
-
|
- | 0.0002 | - | |
338_CYS | GLY |
8.3kJPN chr9:33113824 |
-
|
- | 0.0007 | - | |
352_ASN | SER | VAR_088576 |
rs551564683
|
LB/B | - | - | |
352_ASN | SER |
ClinVar chr9:33113781 |
-
|
Pathogenic | - | Combined low LDL and fibrinogen [MONDO:MONDO:0957260,MedGen:C5830484,OMIM:620364] | |
381_VAL | LEU |
8.3kJPN chr9:33113508 |
-
|
- | 0.0001 | - | |
393_ASP | TYR |
8.3kJPN chr9:33113472 |
-
|
- | 0.0001 | - |