PDB ID | 4TZ4 | CHAIN | C |
---|---|---|---|
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 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
4TZ4 (CHAIN: C) | |
1 | Q16531 |
2 | Q16531 O60885 |
3 | Q16531 P15170 |
4 | 6H0F Q13422 |
5 | Q16531 Q9BU19 |
6 | Q16531 P48729 |
7 | Q9UJQ4 8U15 |
Only interaction residues |
|
||||||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
54_PRO | LEU |
8.3kJPN chr3:3216860 |
-
|
- | 0.0001 | - | |
60_LEU | VAL |
8.3kJPN chr3:3215942 |
-
|
- | 0.0001 | - | |
79_GLN | TER |
ClinVar chr3:3215885 |
rs377356443
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
89_MET | ILE |
8.3kJPN chr3:3215853 |
rs760055652
|
- | 0.0005 | - | |
111_ARG | GLN |
8.3kJPN chr3:3215788 |
rs151127854
|
- | 0.0001 | - | |
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 | - | |
203_ASN | SER |
8.3kJPN chr3:3209397 |
rs1021621569
|
- | 0.0001 | - | |
242_ARG | CYS |
gnomAD chr3:3197929 |
rs541404259
|
- | 0.000266527 | - | |
264_TRP | TER |
ClinVar chr3:3196475 |
rs1450725934
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
301_ILE | THR |
8.3kJPN chr3:3195693 |
rs758001907
|
- | 0.0001 | - | |
307_ARG | LEU |
8.3kJPN chr3:3195675 |
rs752048403
|
- | 0.0001 | - | |
313_ASP | HIS |
gnomAD chr3:3195658 |
rs142337178
|
- | 0.000103478 | - | |
316_ASN | HIS |
8.3kJPN chr3:3195649 |
-
|
- | 0.0001 | - | |
347_ALA | VAL |
8.3kJPN chr3:3194248 |
-
|
- | 0.0001 | - | |
367_ASN | ILE |
ClinVar chr3:3194188 |
rs1575079076
|
Likely pathogenic | - | 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 | - | |
391_CYS | ARG | VAR_079409 |
rs797045036
|
LP/P | - | Intellectual developmental disorder, autosomal recessive 2 (MRT2) [MIM:607417] | |
391_CYS | ARG |
ClinVar chr3:3192707 |
rs797045036
|
Likely pathogenic | - | 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 | - | |
411_PRO | SER |
8.3kJPN chr3:3192647 |
-
|
- | 0.0001 | - | |
418_THR | MET |
8.3kJPN chr3:3192625 |
rs1367633045
|
- | 0.0001 | - | |
425_THR | MET |
gnomAD chr3:3192604 |
rs566932471
|
- | 0.000832073 | - |