| PDB ID | 5FQD
|
CHAIN | A |
|---|---|---|---|
| Protein name | DNA DAMAGE-BINDING PROTEIN 1 | ||
| Uniprot Accession | Q16531 | ||
| The number of similar proteins | 47 | ||
| 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 |
|---|---|
| 5FQD (CHAIN: A) | |
| 1 |
Q96SW2
|
| 2 |
Q9NYV4
|
| 3 |
Q9BW61
Q66K64
|
| 4 |
Q9BW61
Q66K64
Q66K64
|
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 | |
|---|---|---|---|---|---|---|---|
| 18_CYS | GLY |
8.3kJPN chr11:61100389 - |
- | 0.0001 | 0.6421 | - | |
| 25_SER | LEU |
gnomAD chr11:61099151 rs35597036 |
- | 0.000743592 | 0.4788 | - | |
| 25_SER | ALA |
8.3kJPN chr11:61099152 - |
- | 0.0001 | 0.1273 | - | |
| 40_GLU | ASP |
8.3kJPN chr11:61099105 - |
- | 0.0001 | 0.8463 | - | |
| 68_ARG | TRP |
8.3kJPN chr11:61099023 - |
- | 0.0001 | 0.9363 | - | |
| 102_THR | MET |
8.3kJPN chr11:61097452 rs754320597 |
- | 0.0001 | 0.9943 | - | |
| 114_ARG | HIS |
ClinVar chr11:61097043 rs1231861984 |
Likely pathogenic | - | 0.9834 | Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738] | |
| 157_ILE | ASN |
8.3kJPN chr11:61096914 - |
- | 0.0001 | 0.9945 | - | |
| 188_ARG | GLN |
VAR_086006
- |
LP/P | - | 0.8508 | White-Kernohan syndrome (WHIKERS) [MIM:619426] | |
| 188_ARG | TRP |
VAR_086007
- |
LP/P | - | 0.9598 | White-Kernohan syndrome (WHIKERS) [MIM:619426] | |
| 188_ARG | GLN |
ClinVar chr11:61094352 rs2134935097 |
Pathogenic | - | 0.8508 | White-Kernohan syndrome [MONDO:MONDO:0859169,MedGen:C5543635,OMIM:619426] | |
| 213_GLU | LYS |
VAR_086008
- |
LP/P | - | 0.998 | White-Kernohan syndrome (WHIKERS) [MIM:619426] | |
| 213_GLU | LYS |
ClinVar chr11:61094278 rs2134934938 |
Likely pathogenic | - | 0.998 | White-Kernohan syndrome [MONDO:MONDO:0859169,MedGen:C5543635,OMIM:619426] | |
| 241_ASN | SER |
8.3kJPN chr11:61093123 rs1169556093 |
- | 0.0001 | 0.0709 | - | |
| 252_ILE | VAL |
8.3kJPN chr11:61093091 rs1200909412 |
- | 0.0002 | 0.0564 | - | |
| 295_VAL | ILE |
8.3kJPN chr11:61091489 rs756108667 |
- | 0.0001 | 0.0708 | - | |
| 314_LEU | PHE |
8.3kJPN chr11:61090546 - |
- | 0.0001 | 0.8194 | - | |
| 340_SER | ILE |
8.3kJPN chr11:61089871 - |
- | 0.0001 | 0.1349 | - | |
| 739_ARG | HIS |
8.3kJPN chr11:61079317 rs190054116 |
- | 0.0001 | 0.8474 | - | |
| 790_ASN | HIS |
8.3kJPN chr11:61077800 rs759310673 |
- | 0.0001 | 0.2019 | - | |
| 805_HIS | TYR |
8.3kJPN chr11:61077421 - |
- | 0.0001 | 0.349 | - | |
| 859_GLN | ARG |
8.3kJPN chr11:61076540 - |
- | 0.0001 | 0.2467 | - | |
| 971_ALA | GLY |
8.3kJPN chr11:61070548 - |
- | 0.0001 | 0.1424 | - | |
| 978_GLN | ARG |
8.3kJPN chr11:61070527 - |
- | 0.0001 | 0.3719 | - | |
| 1022_THR | SER |
8.3kJPN chr11:61070101 - |
- | 0.0001 | 0.1513 | - | |
| 1059_ASN | SER |
8.3kJPN chr11:61069768 rs1197372725 |
- | 0.0001 | 0.0655 | - | |
| 1069_GLU | LYS |
8.3kJPN chr11:61069739 - |
- | 0.0001 | 0.7853 | - | |
| 1071_SER | CYS |
8.3kJPN chr11:61069732 - |
- | 0.0001 | 0.1544 | - |