PDB ID | 2JKR
|
CHAIN | S |
---|---|---|---|
Protein name | AP-2 COMPLEX SUBUNIT SIGMA-1 | ||
Uniprot Accession | P62743 | ||
The number of similar proteins | 6 | ||
The number of binding states | 4 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2JKR (CHAIN: S) | |
1 |
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2 |
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3 |
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4 |
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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
15_ARG | CYS |
ClinVar chr19:47349360 |
rs397514498
|
Pathogenic | - | Hypocalciuric hypercalcemia, familial, type III [MedGen:C1833372,OMIM:600740,Orphanet:ORPHA101050] | |
15_ARG | LEU |
ClinVar chr19:47349359 |
rs397514499
|
Pathogenic | - | Hypocalciuric hypercalcemia, familial, type III [MedGen:C1833372,OMIM:600740,Orphanet:ORPHA101050] | |
15_ARG | HIS |
ClinVar chr19:47349359 |
rs397514499
|
Pathogenic | - | Hypocalciuric hypercalcemia, familial, type III [MedGen:C1833372,OMIM:600740,Orphanet:ORPHA101050]; not provided [MedGen:CN517202] | |
44_ALA | THR |
8.3kJPN chr19:47349273 |
rs539480372
|
- | 0.0001 | - | |
77_ASN | HIS |
8.3kJPN chr19:47342760 |
-
|
- | 0.0001 | - | |
129_THR | MET |
8.3kJPN chr19:47341747 |
-
|
- | 0.0001 | - |