| 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) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 73_ILE | LEU |
8.3kJPN chr17:78117996 - |
- | 0.0001 | 0.1489 | - | |
| 270_ASP | GLY |
VAR_071090
rs587777204 |
LP/P | - | 0.9976 | Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] | |
| 270_ASP | GLY |
ClinVar chr17:78111999 rs587777204 |
Pathogenic | - | 0.9976 | Richieri Costa-Pereira syndrome [MONDO:MONDO:0009998,MedGen:C1849348,OMIM:268305,Orphanet:3102] | |
| 327_ALA | THR |
8.3kJPN chr17:78111189 rs757676343 |
- | 0.0001 | 0.1008 | - |