PDB ID | 2ZVO | CHAIN | B |
---|---|---|---|
Protein name | NF-kappa-B essential modulator | ||
Uniprot Accession | O88522 | ||
The number of similar proteins | 12 | ||
The number of binding states | 5 | ||
The number of binding partners | 5 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2ZVO (CHAIN: B) | |
1 | O88522 Q96C32 Q96C32 |
2 | O88522 |
3 | O88522 P62988 |
4 | O88522 Q96EP0 |
5 | O88522 2V4H 2V4H |
Only interaction residues |
|
||||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
281_ALA | GLY |
ClinVar chrX:153791119 |
rs137853330
|
Pathogenic | - | Ectodermal dysplasia and immunodeficiency 1 [MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813] | |
283_GLN | TER |
ClinVar chrX:153791124 |
rs1156900338
|
Pathogenic | - | not provided [MedGen:CN517202] | |
304_ASP | ASN |
ClinVar chrX:153791792 |
rs179363867
|
Likely pathogenic | - | not provided|Ectodermal dysplasia and immunodeficiency 1 [MedGen:CN517202|MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813] | |
305_PHE | LEU |
ClinVar chrX:153791797 |
rs2148385082
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
308_GLU | ALA |
ClinVar chrX:153791805 |
rs137853331
|
Pathogenic | - | Immunodeficiency 33 [MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612] | |
312_ARG | GLN |
ClinVar chrX:153791817 |
rs137853332
|
Pathogenic | - | Immunodeficiency 33 [MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612] | |
323_GLN | TER |
ClinVar chrX:153791849 |
-
|
Likely pathogenic | - | not provided [MedGen:CN517202] |