| 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 |
P41273
|
| 2 | Monomeric state |
| 3 |
7D4B
|
| 4 |
7YXU
7YXU
|
| 5 |
P41273
P41273
|
| 6 |
6A3W
6A3W
|
| 7 |
6MHR
6MHR
|
|
Only interaction residues |
|
||||||||||
|
|
| 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 | - |