| PDB ID | 1BFS
|
CHAIN | A |
|---|---|---|---|
| Protein name | NUCLEAR FACTOR NF-KAPPA-B P50 | ||
| Uniprot Accession | P25799 | ||
| The number of similar proteins | 13 | ||
| 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 |
|---|---|
| 1BFS (CHAIN: A) | |
| 1 | Monomeric state |
| 2 |
Q04863
|
| 3 |
P25963
Q04207
|
| 4 |
P25799
Q9BYH8
|
Downdload
Molecule viewer
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Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 278_ILE | MET |
ClinVar chr4:103504030 rs1578793298 |
Pathogenic | - | - | Common variable immunodeficiency [MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572] | |
| 281_ARG | TER |
ClinVar chr4:103504037 rs1578793312 |
Pathogenic/Likely pathogenic | - | - | Common variable immunodeficiency|Inherited Immunodeficiency Diseases|Immunodeficiency, common variable, 12|not provided [MONDO:MONDO:0015517,MedGen:C0009447,OMIM:PS607594,Orphanet:1572|MeSH:D000081207,MedGen:C5197805|MONDO:MONDO:0014697,MedGen:C4225277,OMIM:616576,Orphanet:1572,Orphanet:696874|MedGen:C3661900] | |
| 288_ASN | HIS |
8.3kJPN chr4:103504058 - |
- | 0.0002 | - | - | |
| 292_TRP | TER |
ClinVar chr4:103504071 rs2476435904 |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 324_PRO | LEU |
8.3kJPN chr4:103505891 - |
- | 0.0001 | - | - | |
| 327_VAL | MET |
ClinVar chr4:103505899 rs2149192634 |
Likely pathogenic | - | - | Immunodeficiency, common variable, 12 [MONDO:MONDO:0014697,MedGen:C4225277,OMIM:616576,Orphanet:1572,Orphanet:696874] | |
| 332_ARG | GLN |
gnomAD chr4:103505915 rs143817570 |
- | 0.000179394 | - | - | |
| 347_TYR | TER |
ClinVar chr4:103505961 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 348_TYR | CYS |
8.3kJPN chr4:103505963 - |
- | 0.0001 | - | - |