| PDB ID | 2HXS
|
CHAIN | A |
|---|---|---|---|
| Protein name | Ras-related protein Rab-28 | ||
| Uniprot Accession | P51157 | ||
| The number of similar proteins | 2 | ||
| The number of binding states | 1 | ||
| The number of binding partners | 0 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 2HXS (CHAIN: A) | |
| 1 | Monomeric state |
Downdload
Molecule viewer
|
Only interaction residues |
|
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|
Sequence information
|
Variants
| Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
|---|---|---|---|---|---|---|---|
| 8_SER | ASN |
8.3kJPN chr4:13485752 |
rs550114450
|
- | 0.0002 | - | |
| 23_SER | PHE |
8.3kJPN chr4:13485707 |
rs769199865
|
- | 0.0002 | - | |
| 44_THR | SER |
8.3kJPN chr4:13481095 |
rs1425170596
|
- | 0.0001 | - | |
| 72_GLN | HIS |
8.3kJPN chr4:13475987 |
-
|
- | 0.0002 | - | |
| 82_TYR | CYS |
8.3kJPN chr4:13475958 |
rs773702140
|
- | 0.0001 | - | |
| 102_GLU | LYS |
gnomAD chr4:13462410 |
rs554015222
|
- | 0.000207142 | - | |
| 137_ARG | TER |
ClinVar chr4:13383201 |
rs398123044
|
Pathogenic | - | Cone-rod dystrophy 18|Cone-rod dystrophy [MONDO:MONDO:0014153,MedGen:C3809299,OMIM:615374,Orphanet:1872|Human Phenotype Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872] | |
| 138_THR | ALA |
8.3kJPN chr4:13383198 |
rs200560297
|
- | 0.0011 | - | |
| 139_ILE | VAL |
8.3kJPN chr4:13383195 |
rs1242492511
|
- | 0.0001 | - | |
| 144_HIS | TYR |
ClinVar chr4:13383180 |
-
|
Likely pathogenic | - | Cone dystrophy [MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871] | |
| 146_ARG | TRP |
gnomAD chr4:13383174 |
rs139395840
|
- | 0.000123482 | - | |
| 176_GLU | GLY |
gnomAD chr4:13378215 |
rs374687838
|
- | 0.000101748 | - |