PDB ID | 5CBZ | CHAIN | B |
---|---|---|---|
Protein name | AncMR DNA Binding Domain | ||
PDB | 5CBZ | ||
The number of similar proteins | 26 | ||
The number of binding states | 2 | ||
The number of binding partners | 1 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
418_SER | TER |
ClinVar chr4:149181228 |
rs2149871784
|
Likely pathogenic | - | Autosomal dominant pseudohypoaldosteronism type 1 [MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756] | |
451_GLY | ARG |
ClinVar chr4:149181130 |
rs121912566
|
Pathogenic | - | Autosomal dominant pseudohypoaldosteronism type 1 [MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756] | |
463_CYS | TER |
ClinVar chr4:149115976 |
rs121912564
|
Pathogenic | - | Autosomal dominant pseudohypoaldosteronism type 1 [MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756] | |
469_ARG | TER |
ClinVar chr4:149115960 |
rs1131691921
|
Pathogenic/Likely pathogenic | - | not provided|Autosomal dominant pseudohypoaldosteronism type 1|Pseudohyperaldosteronism type 2 [MedGen:C3661900|MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756|MONDO:MONDO:0011517,MedGen:C1854631,OMIM:605115,Orphanet:88660]; Autosomal dominant pseudohypoaldosteronism type 1|NR3C2-related condition [MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756|] | |
479_ARG | TER |
ClinVar chr5:142689695 |
rs1658915833
|
Pathogenic | - | not provided [MedGen:C3661900] | |
479_ARG | GLN |
8.3kJPN chr5:142689694 |
rs1400646165
|
- | 0.0001 | - | |
491_ARG | TER |
ClinVar chr4:149076050 |
rs121912571
|
Likely pathogenic | - | Autosomal dominant pseudohypoaldosteronism type 1 [MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756] |