PDB ID | 3ULL | CHAIN | A |
---|---|---|---|
Protein name | DNA BINDING PROTEIN | ||
Uniprot Accession | Q04837 | ||
The number of similar proteins | 8 | ||
The number of binding states | 1 | ||
The number of binding partners | 1 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
22_ARG | GLN | VAR_084732 |
-
|
LP/P | - | Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510] | |
22_ARG | GLN |
ClinVar chr7:141443388 |
rs1799652893
|
Pathogenic | - | Optic atrophy 13 with retinal and foveal abnormalities|Cone-rod dystrophy [MONDO:MONDO:0008135,MedGen:C5435585,OMIM:165510|Human Phenotype Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872] | |
24_GLY | VAL | VAR_084733 |
-
|
LP/P | - | Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510] | |
24_GLY | VAL |
ClinVar chr7:141443394 |
rs1799653139
|
Likely pathogenic | - | Optic atrophy 13 with retinal and foveal abnormalities [MONDO:MONDO:0008135,MedGen:C5435585,OMIM:165510] | |
46_ASN | ASP | VAR_084734 |
-
|
LP/P | - | Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510] | |
91_ARG | GLN | VAR_084735 |
-
|
LP/P | - | Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510] | |
91_ARG | GLN |
ClinVar chr7:141445301 |
rs1799747454
|
Pathogenic | - | Optic atrophy 13 with retinal and foveal abnormalities|not provided [MONDO:MONDO:0008135,MedGen:C5435585,OMIM:165510|MedGen:C3661900] | |
95_GLU | GLN | VAR_084736 |
-
|
LP/P | - | Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510] | |
104_MET | ILE |
8.3kJPN chr7:141445341 |
-
|
- | 0.0001 | - | |
116_ILE | VAL | VAR_084737 |
rs777794675
|
US | - | - |