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 |
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 |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
18_CYS | GLY |
8.3kJPN chr11:61100389 |
-
|
- | 0.0001 | - | |
25_SER | LEU |
gnomAD chr11:61099151 |
rs35597036
|
- | 0.000743592 | - | |
25_SER | ALA |
8.3kJPN chr11:61099152 |
-
|
- | 0.0001 | - | |
40_GLU | ASP |
8.3kJPN chr11:61099105 |
-
|
- | 0.0001 | - | |
68_ARG | TRP |
8.3kJPN chr11:61099023 |
-
|
- | 0.0001 | - | |
102_THR | MET |
8.3kJPN chr11:61097452 |
rs754320597
|
- | 0.0001 | - | |
114_ARG | HIS |
ClinVar chr11:61097043 |
rs1231861984
|
Likely pathogenic | - | Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738] | |
157_ILE | ASN |
8.3kJPN chr11:61096914 |
-
|
- | 0.0001 | - | |
188_ARG | GLN | VAR_086006 |
-
|
LP/P | - | White-Kernohan syndrome (WHIKERS) [MIM:619426] | |
188_ARG | TRP | VAR_086007 |
-
|
LP/P | - | White-Kernohan syndrome (WHIKERS) [MIM:619426] | |
188_ARG | GLN |
ClinVar chr11:61094352 |
rs2134935097
|
Pathogenic | - | White-Kernohan syndrome [MONDO:MONDO:0859169,MedGen:C5543635,OMIM:619426] | |
213_GLU | LYS | VAR_086008 |
-
|
LP/P | - | White-Kernohan syndrome (WHIKERS) [MIM:619426] | |
213_GLU | LYS |
ClinVar chr11:61094278 |
rs2134934938
|
Likely pathogenic | - | White-Kernohan syndrome [MONDO:MONDO:0859169,MedGen:C5543635,OMIM:619426] | |
241_ASN | SER |
8.3kJPN chr11:61093123 |
rs1169556093
|
- | 0.0001 | - | |
252_ILE | VAL |
8.3kJPN chr11:61093091 |
rs1200909412
|
- | 0.0002 | - | |
295_VAL | ILE |
8.3kJPN chr11:61091489 |
rs756108667
|
- | 0.0001 | - | |
314_LEU | PHE |
8.3kJPN chr11:61090546 |
-
|
- | 0.0001 | - | |
340_SER | ILE |
8.3kJPN chr11:61089871 |
-
|
- | 0.0001 | - | |
739_ARG | HIS |
8.3kJPN chr11:61079317 |
rs190054116
|
- | 0.0001 | - | |
790_ASN | HIS |
8.3kJPN chr11:61077800 |
rs759310673
|
- | 0.0001 | - | |
805_HIS | TYR |
8.3kJPN chr11:61077421 |
-
|
- | 0.0001 | - | |
859_GLN | ARG |
8.3kJPN chr11:61076540 |
-
|
- | 0.0001 | - | |
971_ALA | GLY |
8.3kJPN chr11:61070548 |
-
|
- | 0.0001 | - | |
978_GLN | ARG |
8.3kJPN chr11:61070527 |
-
|
- | 0.0001 | - | |
1022_THR | SER |
8.3kJPN chr11:61070101 |
-
|
- | 0.0001 | - | |
1059_ASN | SER |
8.3kJPN chr11:61069768 |
rs1197372725
|
- | 0.0001 | - | |
1069_GLU | LYS |
8.3kJPN chr11:61069739 |
-
|
- | 0.0001 | - | |
1071_SER | CYS |
8.3kJPN chr11:61069732 |
-
|
- | 0.0001 | - |