| PDB ID | 5HXB
|
CHAIN | Z |
|---|---|---|---|
| Protein name | Protein cereblon | ||
| Uniprot Accession | Q96SW2 | ||
| The number of similar proteins | 21 | ||
| The number of binding states | 7 | ||
| The number of binding partners | 7 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 5HXB (CHAIN: Z) | |
| 1 |
Q16531
P15170
|
| 2 |
Q16531
|
| 3 |
Q16531
O60885
|
| 4 |
6H0F
Q13422
|
| 5 |
Q16531
Q9BU19
|
| 6 |
Q16531
P48729
|
| 7 |
Q9UJQ4
8U15
|
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 | |
|---|---|---|---|---|---|---|---|
| 54_PRO | LEU |
8.3kJPN chr3:3216860 - |
- | 0.0001 | 0.8819 | - | |
| 60_LEU | VAL |
8.3kJPN chr3:3215942 - |
- | 0.0001 | 0.7335 | - | |
| 79_GLN | TER |
ClinVar chr3:3215885 rs377356443 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 89_MET | ILE |
8.3kJPN chr3:3215853 rs760055652 |
- | 0.0005 | 0.1738 | - | |
| 111_ARG | GLN |
8.3kJPN chr3:3215788 rs151127854 |
- | 0.0001 | 0.1375 | - | |
| 127_ASN | SER |
8.3kJPN chr3:3214607 rs140766922 |
- | 0.0001 | 0.0681 | - | |
| 145_ARG | TER |
ClinVar chr3:3214554 rs1302797003 |
Pathogenic | - | - | Intellectual disability, autosomal recessive 2|not provided [MONDO:MONDO:0011828,MedGen:C1843942,OMIM:607417,Orphanet:88616|MedGen:CN517202] | |
| 197_VAL | ILE |
gnomAD chr3:3209416 rs201974649 |
- | 0.000274679 | 0.0723 | - | |
| 203_ASN | SER |
8.3kJPN chr3:3209397 rs1021621569 |
- | 0.0001 | 0.0614 | - | |
| 242_ARG | CYS |
gnomAD chr3:3197929 rs541404259 |
- | 0.000266527 | 0.0823 | - | |
| 264_TRP | TER |
ClinVar chr3:3196475 rs1450725934 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 301_ILE | THR |
8.3kJPN chr3:3195693 rs758001907 |
- | 0.0001 | 0.3682 | - | |
| 307_ARG | LEU |
8.3kJPN chr3:3195675 rs752048403 |
- | 0.0001 | 0.9852 | - | |
| 313_ASP | HIS |
gnomAD chr3:3195658 rs142337178 |
- | 0.000103478 | 0.6697 | - | |
| 316_ASN | HIS |
8.3kJPN chr3:3195649 - |
- | 0.0001 | 0.1033 | - | |
| 347_ALA | VAL |
8.3kJPN chr3:3194248 - |
- | 0.0001 | 0.9043 | - | |
| 367_ASN | ILE |
ClinVar chr3:3194188 rs1575079076 |
Likely pathogenic | - | 0.8787 | Multiple myeloma [Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443] | |
| 373_ARG | GLN |
8.3kJPN chr3:3194170 rs573677293 |
- | 0.0004 | 0.1208 | - | |
| 391_CYS | ARG |
VAR_079409
rs797045036 |
LP/P | - | 0.9997 | Intellectual developmental disorder, autosomal recessive 2 (MRT2) [MIM:607417] | |
| 391_CYS | ARG |
ClinVar chr3:3192707 rs797045036 |
Likely pathogenic | - | 0.9997 | Intellectual disability, autosomal recessive 2|not provided [MONDO:MONDO:0011828,MedGen:C1843942,OMIM:607417,Orphanet:88616|MedGen:C3661900] | |
| 411_PRO | HIS |
8.3kJPN chr3:3192646 - |
- | 0.0001 | 0.9958 | - | |
| 411_PRO | SER |
8.3kJPN chr3:3192647 - |
- | 0.0001 | 0.9956 | - | |
| 418_THR | MET |
8.3kJPN chr3:3192625 rs1367633045 |
- | 0.0001 | 0.4757 | - | |
| 425_THR | MET |
gnomAD chr3:3192604 rs566932471 |
- | 0.000832073 | 0.0962 | - | |
| 442_LEU | TRP |
8.3kJPN chr3:3192553 - |
- | 0.0001 | 0.3924 | - |