PDB ID | 2HXY | CHAIN | A |
---|---|---|---|
Protein name | Probable ATP-dependent RNA helicase DDX48 | ||
Uniprot Accession | P38919 | ||
The number of similar proteins | 8 | ||
The number of binding states | 5 | ||
The number of binding partners | 5 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2HXY (CHAIN: A) | |
1 | Monomeric state |
2 | Q9HCG8 |
3 | O15234 |
4 | O15234 Q9Y5S9 P61326 |
5 | O15234 Q9Y5S9 P61326 Q9BZI7 |
Only interaction residues |
|
||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
73_ILE | LEU |
8.3kJPN chr17:78117996 |
-
|
- | 0.0001 | - | |
270_ASP | GLY | VAR_071090 |
rs587777204
|
LP/P | - | Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] | |
270_ASP | GLY |
ClinVar chr17:78111999 |
rs587777204
|
Pathogenic | - | Richieri Costa-Pereira syndrome [MONDO:MONDO:0009998,MedGen:C1849348,OMIM:268305,Orphanet:3102] | |
327_ALA | THR |
8.3kJPN chr17:78111189 |
rs757676343
|
- | 0.0001 | - |