PDB ID | 1KSJ | CHAIN | B |
---|---|---|---|
Protein name | RETINAL ROD RHODOPSIN-SENSITIVE CGMP 3',5'-CYCLIC PHOSPHODIESTERASE DELTA-SUBUNIT | ||
Uniprot Accession | O43924 | ||
The number of similar proteins | 35 | ||
The number of binding states | 4 | ||
The number of binding partners | 3 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
16_LYS | TER |
ClinVar chr2:232645779 |
rs2106294164
|
Pathogenic | - | Joubert syndrome 22 [MONDO:MONDO:0014297,MedGen:C3810278,OMIM:615665,Orphanet:2754] | |
23_ARG | GLN |
8.3kJPN chr2:232603881 |
rs765707721
|
- | 0.0001 | - | |
61_ARG | TER |
ClinVar chr2:232602807 |
-
|
Pathogenic | - | Joubert syndrome 22 [MONDO:MONDO:0014297,MedGen:C3810278,OMIM:615665,Orphanet:2754] | |
73_LYS | GLU |
8.3kJPN chr2:232602771 |
-
|
- | 0.0001 | - | |
75_ARG | CYS |
8.3kJPN chr2:232602765 |
rs758019119
|
- | 0.0001 | - | |
136_ASP | ASN |
gnomAD chr2:232597709 |
rs142298615
|
- | 0.000393451 | - | |
137_ASP | ASN |
gnomAD chr2:232597706 |
rs146510084
|
- | 0.00066223 | - | |
143_SER | THR |
8.3kJPN chr2:232597688 |
-
|
- | 0.0001 | - |