PDB ID | 6BWV
|
CHAIN | E |
---|---|---|---|
Protein name | Tumor necrosis factor receptor superfamily member 9 | ||
Uniprot Accession | Q07011 | ||
The number of similar proteins | 17 | ||
The number of binding states | 7 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
6BWV (CHAIN: E) | |
1 |
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2 | Monomeric state |
3 |
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4 |
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5 |
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6 |
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7 |
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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
47_PRO | LEU |
gnomAD chr1:7998849 rs762508142 |
- | 0.000199119 | 0.0937 | - | |
56_ALA | THR |
VAR_018920
rs9657963 |
LB/B | - | 0.0583 | - | |
56_ALA | THR |
gnomAD chr1:7998823 rs9657963 |
- | 0.00373827 | 0.0583 | - | |
100_SER | ASN |
8.3kJPN chr1:7998300 rs772618014 |
- | 0.0004 | 0.1109 | - | |
104_GLN | TER |
ClinVar chr1:7998289 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
108_GLN | GLU |
gnomAD chr1:7998277 rs147680622 |
- | 0.000205048 | 0.0634 | - | |
109_GLY | SER |
VAR_088225
- |
US | - | 0.6659 | Immunodeficiency 109 with lymphoproliferation (IMD109) [MIM:620282] | |
109_GLY | SER |
ClinVar chr1:7998274 - |
Pathogenic | - | 0.6659 | Immunodeficiency 109 with lymphoproliferation [MONDO:MONDO:0859526,MedGen:C5830346,OMIM:620282] | |
115_LYS | ASN |
VAR_018921
rs9657965 |
LB/B | - | 0.0978 | - | |
130_ARG | HIS |
8.3kJPN chr1:7997774 rs149951504 |
- | 0.0001 | 0.0631 | - | |
130_ARG | CYS |
8.3kJPN chr1:7997775 - |
- | 0.0001 | 0.1938 | - | |
134_ARG | TER |
ClinVar chr1:7997763 rs771142611 |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
156_VAL | MET |
8.3kJPN chr1:7995151 rs1289916547 |
- | 0.0001 | 0.3703 | - |