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 |
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 |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
297_ALA | THR |
8.3kJPN chrX:47486223 |
rs1454731911
|
- | 0.0002 | - | |
298_GLY | VAL | VAR_013139 |
rs28935480
|
LP/P | - | Properdin deficiency (PFD) [MIM:312060] | |
298_GLY | VAL |
ClinVar chrX:47486219 |
rs28935480
|
Pathogenic | - | Properdin deficiency, X-linked [MONDO:MONDO:0010713,MedGen:C1839454,OMIM:312060,Orphanet:2966] | |
299_ASP | ASN |
gnomAD chrX:47486217 |
rs61737993
|
- | 0.00136078 | - | |
321_TRP | GLY |
ClinVar chrX:47485898 |
rs1603083173
|
Pathogenic | - | not provided [MedGen:C3661900] | |
343_GLN | ARG | VAR_002003 |
-
|
LP/P | - | Properdin deficiency (PFD) [MIM:312060] | |
403_ARG | HIS |
8.3kJPN chrX:47485493 |
rs1445510980
|
- | 0.0001 | - | |
414_TYR | ASP | VAR_002004 |
rs132630261
|
LP/P | - | Properdin deficiency (PFD) [MIM:312060] | |
414_TYR | ASP |
ClinVar chrX:47485461 |
rs132630261
|
Pathogenic | - | Properdin deficiency, type III [MedGen:C1839456] |