PDB ID | 3QD6
|
CHAIN | R |
---|---|---|---|
Protein name | Tumor necrosis factor receptor superfamily member 5 | ||
Uniprot Accession | P25942 | ||
The number of similar proteins | 8 | ||
The number of binding states | 5 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3QD6 (CHAIN: R) | |
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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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
26_CYS | GLN |
VAR_039301
- |
US | - | 0.9384 | Bladder carcinoma cell line Hu549 | |
35_SER | GLY |
VAR_039302
rs750234130 |
US | - | 0.0596 | Bladder carcinoma cell line Hu549 | |
37_CYS | GLY |
VAR_077569
- |
LP/P | - | 0.769 | Immunodeficiency with hyper-IgM 3 (HIGM3) [MIM:606843] | |
39_SER | THR |
VAR_039303
- |
US | - | 0.1096 | Bladder carcinoma cell line Hu549 | |
53_GLU | TER |
ClinVar chr20:44750898 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
83_CYS | ARG |
VAR_013628
rs28931586 |
LP/P | - | 0.9553 | Immunodeficiency with hyper-IgM 3 (HIGM3) [MIM:606843] | |
83_CYS | ARG |
ClinVar chr20:44750988 rs28931586 |
Pathogenic | - | 0.9553 | Hyper-IgM syndrome type 3 [MONDO:MONDO:0011735,MedGen:C1720957,OMIM:606843,Orphanet:101090] | |
90_ARG | GLN |
gnomAD chr20:44751261 rs761229326 |
- | 0.000143181 | 0.0704 | - | |
90_ARG | GLN |
8.3kJPN chr20:44751261 rs761229326 |
- | 0.0001 | 0.0704 | - | |
102_ILE | MET |
8.3kJPN chr20:44751298 - |
- | 0.0001 | 0.1055 | - | |
124_SER | LEU |
VAR_018751
rs11569321 |
LB/B | - | 0.081 | - | |
124_SER | LEU |
gnomAD chr20:44751363 rs11569321 |
- | 0.0104388 | 0.081 | - | |
134_ILE | PHE |
8.3kJPN chr20:44751392 - |
- | 0.0001 | 0.1054 | - | |
136_THR | THR |
ClinVar chr20:44751769 rs2145595063 |
Pathogenic | - | - | Hyper-IgM syndrome type 3 [MONDO:MONDO:0011735,MedGen:C1720957,OMIM:606843,Orphanet:101090] |