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 | 6 | ||
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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6 |
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Only interaction residues |
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Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
281_ALA | GLY |
ClinVar chrX:153791119 |
rs137853330
|
Pathogenic | - | Hypohidrotic ectodermal dysplasia with immune deficiency [MedGen:C1846006,OMIM:300291,Orphanet:ORPHA98813] | |
283_GLN | TER |
ClinVar chrX:153791124 |
rs1156900338
|
Pathogenic | - | not provided [MedGen:CN517202] | |
304_ASP | ASN |
ClinVar chrX:153791792 |
rs179363867
|
Likely pathogenic | - | Hypohidrotic ectodermal dysplasia with immune deficiency [MedGen:C1846006,OMIM:300291,Orphanet:ORPHA98813]; not provided [MedGen:CN517202] | |
308_GLU | ALA |
ClinVar chrX:153791805 |
rs137853331
|
Pathogenic | - | Familial atypical mycobacteriosis, type 1, X-linked [MedGen:C1970879,OMIM:300636,Orphanet:ORPHA319612] | |
312_ARG | GLN |
ClinVar chrX:153791817 |
rs137853332
|
Pathogenic | - | Familial atypical mycobacteriosis, type 1, X-linked [MedGen:C1970879,OMIM:300636,Orphanet:ORPHA319612] |