| 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) |
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 | - | - |