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 |
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3 |
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4 |
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5 |
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6 |
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7 |
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8 |
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9 |
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10 |
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11 |
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12 |
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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
20_GLN | HIS |
8.3kJPN chr19:6694557 - |
- | 0.0001 | 0.9919 | - | |
24_GLY | CYS |
8.3kJPN chr19:6694547 - |
- | 0.0003 | 0.4243 | - | |
36_ASP | ASN |
ClinVar chr19:6694511 rs1599507415 |
Likely pathogenic | - | 0.5718 | Mesangiocapillary glomerulonephritis [Human Phenotype Ontology:HP:0000793,MONDO:MONDO:0002461,MedGen:C0017662] | |
49_ARG | LEU |
VAR_063655
- |
LP/P | - | 0.8973 | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
101_ALA | VAL |
VAR_063216
rs121909584 |
LP/P | - | 0.1579 | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
108_CYS | TRP |
ClinVar chr19:6693022 rs1236557685 |
Likely pathogenic | - | 0.9877 | not provided [MedGen:C3661900] | |
122_ASP | ASN |
VAR_063217
rs121909585 |
LP/P | - | 0.1388 | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
141_ARG | GLN |
8.3kJPN chr19:6690728 rs777904423 |
- | 0.0001 | 0.0836 | - | |
151_THR | ALA |
8.3kJPN chr19:6690699 - |
- | 0.0001 | 0.849 | - | |
164_ILE | THR |
ClinVar chr19:6690659 rs1918142335 |
Pathogenic | - | 0.2583 | Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134] | |
165_CYS | TRP |
VAR_063218
- |
LP/P | - | 0.9941 | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
168_GLN | LYS |
VAR_063219
- |
LP/P | - | 0.0872 | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
231_GLY | ASP |
VAR_019207
rs11569534 |
LB/B | - | 0.1152 | - | |
231_GLY | ASP |
gnomAD chr19:6686274 rs11569534 |
- | 0.00147915 | 0.1152 | - | |
259_VAL | ILE |
gnomAD chr19:6686191 rs537300095 |
- | 0.000258453 | 0.0874 | - | |
259_VAL | ILE |
8.3kJPN chr19:6686191 rs537300095 |
- | 0.0001 | 0.0874 | - | |
270_GLY | ALA |
8.3kJPN chr19:6686157 - |
- | 0.0001 | 0.3941 | - | |
278_ALA | SER |
8.3kJPN chr19:6685157 - |
- | 0.0001 | 0.1662 | - | |
293_ALA | THR |
8.3kJPN chr19:6685112 rs556995881 |
- | 0.0001 | 0.0857 | - |