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 | P84092 P17427 |
2 | Q66HM2 |
3 | P63010 Q66HM2 |
4 | Q66HM2 Q90VU7 |
5 | P84092 P63010 Q66HM2 |
6 | Q66HM2 Q90VU7 Q96CW1 |
7 | P84092 P84092 P63010 Q66HM2 |
Only interaction residues |
|
||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
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 | - |