PDB ID | 5HXB
|
CHAIN | Z |
---|---|---|---|
Protein name | Protein cereblon | ||
Uniprot Accession | Q96SW2 | ||
The number of similar proteins | 10 | ||
The number of binding states | 6 | ||
The number of binding partners | 7 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
5HXB (CHAIN: Z) | |
1 |
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2 |
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3 |
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4 |
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5 |
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6 |
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Only interaction residues |
|
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|
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 | - | |
89_MET | ILE |
8.3kJPN chr3:3215853 |
rs760055652
|
- | 0.0005 | - | |
111_ARG | GLN |
8.3kJPN chr3:3215788 |
rs151127854
|
- | 0.0001 | - | |
127_ASN | SER |
8.3kJPN chr3:3214607 |
rs140766922
|
- | 0.0001 | - | |
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 | - | |
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 | - | |
373_ARG | GLN |
8.3kJPN chr3:3194170 |
rs573677293
|
- | 0.0004 | - | |
391_CYS | ARG | VAR_079409 |
rs797045036
|
Disease | - | Mental retardation, autosomal recessive 2A (MRT2A) [MIM:607417] | |
391_CYS | ARG |
ClinVar chr3:3192707 |
rs797045036
|
Likely pathogenic | - | Mental retardation, autosomal recessive 2 [MedGen:C1843942,OMIM:607417]; not provided [MedGen:CN517202] | |
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 | - | |
419_ARG | TER |
ClinVar chr3:3192623 |
rs121918368
|
Pathogenic | - | Mental retardation, autosomal recessive 2 [MedGen:C1843942,OMIM:607417] | |
425_THR | MET |
gnomAD chr3:3192604 |
rs566932471
|
- | 0.000832073 | - | |
442_LEU | TRP |
8.3kJPN chr3:3192553 |
-
|
- | 0.0001 | - |