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 |
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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 | |
---|---|---|---|---|---|---|---|
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] |