PDB ID | 3CU0 | CHAIN | A |
---|---|---|---|
Protein name | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 | ||
Uniprot Accession | O94766 | ||
The number of similar proteins | 6 | ||
The number of binding states | 1 | ||
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 | |
---|---|---|---|---|---|---|---|
82_PRO | LEU |
ClinVar chr11:62387981 |
rs755601885
|
Pathogenic | - | Larsen-like syndrome, B3GAT3 type [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139] | |
84_TYR | CYS |
8.3kJPN chr11:62387975 |
-
|
- | 0.0001 | - | |
95_ARG | TER |
ClinVar chr11:62384794 |
rs750685646
|
Pathogenic/Likely pathogenic | - | Larsen-like syndrome, B3GAT3 type|not provided [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139|MedGen:C3661900] | |
111_VAL | MET |
ClinVar chr11:62384746 |
rs1085307917
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
112_GLU | TER |
ClinVar chr11:62384743 |
-
|
Pathogenic | - | Larsen-like syndrome, B3GAT3 type [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139] | |
119_PRO | LEU |
8.3kJPN chr11:62384721 |
rs746566185
|
- | 0.0001 | - | |
133_THR | ILE |
8.3kJPN chr11:62384679 |
-
|
- | 0.0001 | - | |
140_PRO | LEU |
ClinVar chr11:62384658 |
rs879255269
|
Pathogenic | - | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS [-] | |
161_ARG | TRP |
8.3kJPN chr11:62384596 |
rs765246909
|
- | 0.0001 | - | |
169_ARG | TRP |
ClinVar chr11:62384572 |
rs766019547
|
Pathogenic | - | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS|Larsen-like syndrome, B3GAT3 type [|MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139] | |
183_PRO | GLN |
8.3kJPN chr11:62384529 |
-
|
- | 0.0001 | - | |
185_GLY | GLU |
gnomAD chr11:62384523 |
rs140755387
|
- | 0.000652124 | - | |
193_ALA | ASP |
8.3kJPN chr11:62384499 |
-
|
- | 0.0001 | - | |
201_ARG | GLN |
8.3kJPN chr11:62384475 |
rs1242695402
|
- | 0.0006 | - | |
202_GLU | TER |
ClinVar chr11:62384473 |
-
|
Pathogenic | - | Larsen-like syndrome, B3GAT3 type [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139] | |
211_ARG | CYS |
8.3kJPN chr11:62384256 |
rs745645272
|
- | 0.0002 | - | |
223_GLY | SER | VAR_075371 |
rs372487178
|
US | - | Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] | |
223_GLY | SER |
ClinVar chr11:62384220 |
rs372487178
|
Pathogenic | - | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS [-] | |
224_LEU | GLN |
ClinVar chr11:62384216 |
rs1419830872
|
Pathogenic | - | not provided [MedGen:C3661900] | |
225_ARG | TER |
ClinVar chr11:62384214 |
rs377340567
|
Pathogenic/Likely pathogenic | - | not provided|MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS|Larsen-like syndrome, B3GAT3 type [MedGen:C3661900||MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139] | |
231_VAL | LEU |
8.3kJPN chr11:62384196 |
rs769766579
|
- | 0.0002 | - | |
235_ARG | GLN |
8.3kJPN chr11:62384183 |
rs758179182
|
- | 0.0001 | - | |
237_VAL | MET |
gnomAD chr11:62384178 |
rs140378202
|
- | 0.00122484 | - | |
255_GLY | ALA |
8.3kJPN chr11:62384123 |
-
|
- | 0.0001 | - | |
258_VAL | MET |
gnomAD chr11:62384115 |
rs200860039
|
- | 0.000553089 | - | |
258_VAL | MET |
8.3kJPN chr11:62384115 |
rs200860039
|
- | 0.0016 | - | |
274_THR | ASN |
gnomAD chr11:62384066 |
rs112223093
|
- | 0.00134492 | - | |
277_ARG | GLN | VAR_066624 |
rs387906937
|
LP/P | - | Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] | |
277_ARG | GLN |
ClinVar chr11:62384057 |
rs387906937
|
Pathogenic/Likely pathogenic | - | Larsen-like syndrome, B3GAT3 type|MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS|not provided [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139||MedGen:C3661900] | |
297_ARG | TRP |
ClinVar chr11:62383998 |
rs759636773
|
Pathogenic | - | Larsen-like syndrome, B3GAT3 type [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139] | |
310_ARG | GLN |
8.3kJPN chr11:62383252 |
rs779076359
|
- | - | - | |
324_ARG | TRP |
8.3kJPN chr11:62383211 |
rs780467028
|
- | 0.0001 | - | |
327_ARG | TRP |
gnomAD chr11:62383202 |
rs200511074
|
- | 0.000167828 | - | |
329_SER | TER |
ClinVar chr11:62383195 |
-
|
Likely pathogenic | - | Larsen-like syndrome, B3GAT3 type [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139] |