PDB ID | 2JKR
|
CHAIN | S |
---|---|---|---|
Protein name | AP-2 COMPLEX SUBUNIT SIGMA-1 | ||
Uniprot Accession | P62743 | ||
The number of similar proteins | 12 | ||
The number of binding states | 7 | ||
The number of binding partners | 5 |
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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5 |
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6 |
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7 |
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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 | |
---|---|---|---|---|---|---|---|
15_ARG | CYS |
ClinVar chr19:47349360 rs397514498 |
Pathogenic | - | - | Familial hypocalciuric hypercalcemia 3|not provided [MONDO:MONDO:0010926,MedGen:C1833372,OMIM:600740,Orphanet:101050,Orphanet:405|MedGen:C3661900] | |
15_ARG | LEU |
ClinVar chr19:47349359 rs397514499 |
Pathogenic | - | - | Familial hypocalciuric hypercalcemia 3|not provided [MONDO:MONDO:0010926,MedGen:C1833372,OMIM:600740,Orphanet:101050,Orphanet:405|MedGen:C3661900] | |
15_ARG | HIS |
ClinVar chr19:47349359 rs397514499 |
Pathogenic | - | - | Familial hypocalciuric hypercalcemia 3|not provided [MONDO:MONDO:0010926,MedGen:C1833372,OMIM:600740,Orphanet:101050,Orphanet:405|MedGen:C3661900] | |
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 | - | - |