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 |
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3 |
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4 |
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5 |
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Only interaction residues |
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|
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 | - |