| PDB ID | 5WAI
|
CHAIN | B |
|---|---|---|---|
| Protein name | Polycomb protein SUZ12 | ||
| Uniprot Accession | Q15022 | ||
| The number of similar proteins | 4 | ||
| The number of binding states | 4 | ||
| The number of binding partners | 4 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 5WAI (CHAIN: B) | |
| 1 |
Q09028
Q6ZN18
|
| 2 |
Q09028
|
| 3 |
Q5T6S3
Q09028
|
| 4 |
A6NHQ4
Q5T6S3
Q09028
|
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 | |
|---|---|---|---|---|---|---|---|
| 120_HIS | LEU |
8.3kJPN chr17:30267478 - |
- | 0.0001 | 0.5626 | - | |
| 121_ARG | TER |
ClinVar chr17:30267480 rs750383066 |
Pathogenic/Likely pathogenic | - | - | Inborn genetic diseases|Imagawa-Matsumoto syndrome|not provided [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0032916,MedGen:C5394073,OMIM:618786,Orphanet:659463|MedGen:C3661900] | |
| 216_ASN | ILE |
VAR_028100
rs17339444 |
LB/B | - | 0.9844 | - | |
| 316_GLU | ALA |
8.3kJPN chr17:30310047 - |
- | 0.0001 | 0.9635 | - | |
| 317_VAL | ALA |
8.3kJPN chr17:30310050 - |
- | 0.0001 | 0.9561 | - | |
| 352_GLY | ARG |
8.3kJPN chr17:30315369 - |
- | 0.0001 | 0.9953 | - | |
| 423_ARG | TER |
ClinVar chr17:30320326 rs2508677290 |
Likely pathogenic | - | - | Imagawa-Matsumoto syndrome [MONDO:MONDO:0032916,MedGen:C5394073,OMIM:618786,Orphanet:659463] | |
| 475_ILE | PHE |
8.3kJPN chr17:30321013 - |
- | 0.0001 | 0.9258 | - | |
| 535_ARG | GLN |
VAR_083817
rs1909934091 |
US | - | 0.9556 | Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786] | |
| 535_ARG | TER |
ClinVar chr17:30322590 rs2508684640 |
Likely pathogenic | - | - | Imagawa-Matsumoto syndrome [MONDO:MONDO:0032916,MedGen:C5394073,OMIM:618786,Orphanet:659463] | |
| 544_LEU | PHE |
8.3kJPN chr17:30322617 - |
- | 0.0001 | 0.9779 | - |