| PDB ID | 1C3D
|
CHAIN | A |
|---|---|---|---|
| Protein name | C3D | ||
| Uniprot Accession | P01024 | ||
| The number of similar proteins | 25 | ||
| The number of binding states | 13 | ||
| The number of binding partners | 9 | ||
Coloring
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
|
| 13 |
P68799
P36980
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| 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 | - | |
| 41_TRP | ARG |
ClinVar chr19:6694496 - |
Likely pathogenic | - | - | Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134] | |
| 41_TRP | ARG |
ClinVar chr19:6694496 - |
Likely pathogenic | - | - | Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134] | |
| 49_ARG | LEU |
VAR_063655
- |
LP/P | - | 0.8973 | Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] | |
| 88_TYR | TER |
ClinVar chr19:6693082 - |
Pathogenic | - | - | Complement component 3 deficiency [MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779,Orphanet:280133] | |
| 101_ALA | VAL |
VAR_063216
rs121909584 |
LP/P | - | 0.1579 | Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] | |
| 101_ALA | VAL |
ClinVar chr19:6693044 rs121909584 |
Likely pathogenic | - | 0.1579 | Atypical hemolytic-uremic syndrome with C3 anomaly|Atypical hemolytic-uremic syndrome [MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925,Orphanet:2134|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134] | |
| 101_ALA | ASP |
ClinVar chr19:6693044 - |
Likely pathogenic | - | - | Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134] | |
| 122_ASP | ASN |
VAR_063217
rs121909585 |
LP/P | - | 0.1388 | Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] | |
| 123_GLY | ARG |
ClinVar chr19:6692979 - |
Likely pathogenic | - | - | Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134] | |
| 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/Likely pathogenic | - | 0.2583 | Atypical hemolytic-uremic syndrome|not provided [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MedGen:C3661900] | |
| 165_CYS | TRP |
VAR_063218
- |
LP/P | - | 0.9941 | Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] | |
| 168_GLN | LYS |
VAR_063219
rs2145404130 |
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 | - | |
| 277_GLN | TER |
ClinVar chr19:6686137 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 278_ALA | SER |
8.3kJPN chr19:6685157 - |
- | 0.0001 | 0.1662 | - | |
| 289_TYR | TER |
ClinVar chr19:6685122 - |
Likely pathogenic | - | - | Complement component 3 deficiency [MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779,Orphanet:280133] | |
| 293_ALA | THR |
8.3kJPN chr19:6685112 rs556995881 |
- | 0.0001 | 0.0857 | - |