| PDB ID | 6RV6
|
CHAIN | B |
|---|---|---|---|
| Protein name | Properdin | ||
| Uniprot Accession | P27918 | ||
| The number of similar proteins | 7 | ||
| The number of binding states | 4 | ||
| The number of binding partners | 6 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 6RV6 (CHAIN: B) | |
| 1 |
P27918
|
| 2 |
P27918
7B26
|
| 3 |
P27918
P01024
|
| 4 |
7NOZ
P00751
P27918
P01024
|
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 | |
|---|---|---|---|---|---|---|---|
| 297_ALA | THR |
8.3kJPN chrX:47486223 rs1454731911 |
- | 0.0002 | 0.072 | - | |
| 298_GLY | VAL |
VAR_013139
rs28935480 |
LP/P | - | 0.4925 | Properdin deficiency (PFD) [MIM:312060] | |
| 298_GLY | VAL |
ClinVar chrX:47486219 rs28935480 |
Pathogenic | - | 0.4925 | Properdin deficiency, X-linked [MONDO:MONDO:0010713,MedGen:C1839454,OMIM:312060,Orphanet:2966] | |
| 299_ASP | ASN |
gnomAD chrX:47486217 rs61737993 |
- | 0.00136078 | 0.0861 | - | |
| 321_TRP | GLY |
ClinVar chrX:47485898 rs1603083173 |
Pathogenic | - | 0.7513 | not provided [MedGen:C3661900] | |
| 343_GLN | ARG |
VAR_002003
- |
LP/P | - | 0.3103 | Properdin deficiency (PFD) [MIM:312060] | |
| 403_ARG | HIS |
8.3kJPN chrX:47485493 rs1445510980 |
- | 0.0001 | 0.3065 | - | |
| 414_TYR | ASP |
VAR_002004
rs132630261 |
LP/P | - | 0.6685 | Properdin deficiency (PFD) [MIM:312060] | |
| 414_TYR | ASP |
ClinVar chrX:47485461 rs132630261 |
Pathogenic | - | 0.6685 | Properdin deficiency, type III [MedGen:C1839456] |