PDB ID | 1C3D | CHAIN | A |
---|---|---|---|
Protein name | C3D | ||
Uniprot Accession | P01024 | ||
The number of similar proteins | 23 | ||
The number of binding states | 12 | ||
The number of binding partners | 9 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1C3D (CHAIN: A) | |
1 | Monomeric state |
2 | C8LN82 |
3 | P20023 |
4 | P01024 |
5 | P08603 |
6 | Q99UV2 |
7 | P11215 |
8 | Q587F5 |
9 | P20023 P20023 |
10 | P01024 P08603 |
11 | P01024 Q931F4 |
12 | 7UE9 7UE9 |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
20_GLN | HIS |
8.3kJPN chr19:6694557 |
-
|
- | 0.0001 | - | |
24_GLY | CYS |
8.3kJPN chr19:6694547 |
-
|
- | 0.0003 | - | |
36_ASP | ASN |
ClinVar chr19:6694511 |
rs1599507415
|
Likely pathogenic | - | Mesangiocapillary glomerulonephritis [Human Phenotype Ontology:HP:0000793,MONDO:MONDO:0002461,MedGen:C0017662] | |
49_ARG | LEU | VAR_063655 |
-
|
LP/P | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
101_ALA | VAL | VAR_063216 |
rs121909584
|
LP/P | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
108_CYS | TRP |
ClinVar chr19:6693022 |
rs1236557685
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
122_ASP | ASN | VAR_063217 |
rs121909585
|
LP/P | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
141_ARG | GLN |
8.3kJPN chr19:6690728 |
rs777904423
|
- | 0.0001 | - | |
151_THR | ALA |
8.3kJPN chr19:6690699 |
-
|
- | 0.0001 | - | |
164_ILE | THR |
ClinVar chr19:6690659 |
rs1918142335
|
Pathogenic | - | Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134] | |
165_CYS | TRP | VAR_063218 |
-
|
LP/P | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
168_GLN | LYS | VAR_063219 |
-
|
LP/P | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
231_GLY | ASP | VAR_019207 |
rs11569534
|
LB/B | - | - | |
231_GLY | ASP |
gnomAD chr19:6686274 |
rs11569534
|
- | 0.00147915 | - | |
259_VAL | ILE |
gnomAD chr19:6686191 |
rs537300095
|
- | 0.000258453 | - | |
259_VAL | ILE |
8.3kJPN chr19:6686191 |
rs537300095
|
- | 0.0001 | - | |
270_GLY | ALA |
8.3kJPN chr19:6686157 |
-
|
- | 0.0001 | - | |
278_ALA | SER |
8.3kJPN chr19:6685157 |
-
|
- | 0.0001 | - | |
293_ALA | THR |
8.3kJPN chr19:6685112 |
rs556995881
|
- | 0.0001 | - |