PDB ID | 4P6Z | CHAIN | B |
---|---|---|---|
Protein name | AP-1 complex subunit beta-1 | ||
Uniprot Accession | Q10567 | ||
The number of similar proteins | 13 | ||
The number of binding states | 8 | ||
The number of binding partners | 7 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
4P6Z (CHAIN: B) | |
1 | P35585 P22892 |
2 | P84092 P17427 |
3 | P35585 1W63 P61967 |
4 | P84092 Q3ZC13 Q66HM2 |
5 | P84092 P62743 Q66HM2 |
6 | Q66HM2 Q90VU7 Q96CW1 |
7 | P84092 P84092 P62743 Q66HM2 |
8 | P84092 P62743 Q0JRZ9 P18484 |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
22_LEU | PHE |
8.3kJPN chr22:29759069 |
-
|
- | 0.0001 | - | |
23_ASN | SER |
8.3kJPN chr17:33925279 |
-
|
- | 0.0001 | - | |
56_ASN | SER |
8.3kJPN chr22:29755925 |
rs1228125102
|
- | 0.0001 | - | |
78_LYS | ARG |
8.3kJPN chr22:29755859 |
-
|
- | 0.0001 | - | |
86_MET | LEU |
8.3kJPN chr22:29755836 |
-
|
- | 0.0001 | - | |
108_ARG | TRP |
ClinVar chr22:29754918 |
rs1160266009
|
Pathogenic | - | Autosomal recessive keratitis-ichthyosis-deafness syndrome [MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477] | |
114_ARG | GLN |
8.3kJPN chr17:33935222 |
-
|
- | 0.0001 | - | |
114_ARG | CYS |
8.3kJPN chr22:29754900 |
-
|
- | 0.0001 | - | |
141_ALA | VAL |
8.3kJPN chr22:29754818 |
-
|
- | 0.0001 | - | |
144_CYS | ARG | VAR_083524 |
rs1602749299
|
LP/P | - | Keratitis-ichthyosis-deafness syndrome, autosomal recessive (KIDAR) [MIM:242150] | |
144_CYS | ARG |
ClinVar chr22:29754810 |
rs1602749299
|
Pathogenic | - | Autosomal recessive keratitis-ichthyosis-deafness syndrome [MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477] | |
181_VAL | ILE |
gnomAD chr17:33951431 |
rs180860333
|
- | 0.000772053 | - | |
204_ILE | VAL |
8.3kJPN chr22:29752521 |
-
|
- | 0.0001 | - | |
205_ASN | SER |
8.3kJPN chr22:29752517 |
rs772647244
|
- | 0.0002 | - | |
212_ASN | LYS |
8.3kJPN chr22:29752495 |
-
|
- | 0.0001 | - | |
222_ILE | VAL |
8.3kJPN chr17:33951554 |
rs757684565
|
- | 0.0001 | - | |
223_LEU | PRO |
ClinVar chr22:29752463 |
rs2147995205
|
Pathogenic | - | Autosomal recessive keratitis-ichthyosis-deafness syndrome [MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477] | |
235_ARG | HIS |
gnomAD chr22:29752427 |
rs140871358
|
- | 0.000168094 | - | |
235_ARG | HIS |
8.3kJPN chr22:29752427 |
rs140871358
|
- | 0.0001 | - | |
273_ASP | TYR |
8.3kJPN chr17:33953740 |
-
|
- | 0.0001 | - | |
285_ALA | SER |
8.3kJPN chr22:29750724 |
-
|
- | 0.0001 | - | |
307_ASN | SER |
8.3kJPN chr22:29750657 |
rs747391498
|
- | 0.0001 | - | |
319_HIS | GLN |
8.3kJPN chr22:29747796 |
-
|
- | 0.0006 | - | |
323_VAL | MET |
8.3kJPN chr22:29747786 |
-
|
- | 0.0001 | - | |
371_ARG | GLN |
8.3kJPN chr22:29747203 |
rs751083657
|
- | 0.0001 | - | |
390_ARG | HIS |
8.3kJPN chr22:29746126 |
rs754230380
|
- | 0.0001 | - | |
411_ILE | THR |
8.3kJPN chr17:33963436 |
-
|
- | 0.0001 | - | |
420_LYS | GLN |
8.3kJPN chr17:33963462 |
-
|
- | 0.0001 | - | |
420_LYS | THR |
8.3kJPN chr17:33963463 |
-
|
- | 0.0001 | - | |
420_LYS | ASN |
8.3kJPN chr17:33963464 |
-
|
- | 0.0001 | - | |
421_TYR | TER |
ClinVar chr22:29746032 |
rs2147978539
|
Pathogenic | - | Autosomal recessive keratitis-ichthyosis-deafness syndrome [MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477] | |
426_GLU | GLY |
8.3kJPN chr17:33966619 |
-
|
- | 0.0001 | - | |
427_SER | GLY |
8.3kJPN chr17:33966621 |
-
|
- | 0.0001 | - | |
434_GLU | LYS |
8.3kJPN chr22:29745344 |
rs759728681
|
- | 0.0001 | - | |
435_ASN | ASP |
8.3kJPN chr22:29745341 |
-
|
- | 0.0001 | - | |
446_ALA | THR |
gnomAD chr22:29745308 |
rs543593960
|
- | 0.000175152 | - | |
448_MET | VAL |
8.3kJPN chr17:33966684 |
-
|
- | 0.0002 | - | |
462_ALA | PRO |
8.3kJPN chr17:33966726 |
-
|
- | 0.0001 | - | |
476_GLU | LYS |
8.3kJPN chr22:29745218 |
rs576191808
|
- | 0.0003 | - | |
534_PRO | THR |
8.3kJPN chr22:29737686 |
rs750013781
|
- | 0.0003 | - | |
542_LEU | VAL |
8.3kJPN chr22:29737662 |
-
|
- | 0.0001 | - | |
551_GLU | ASP |
gnomAD chr22:29737633 |
rs200248984
|
- | 0.000298317 | - | |
566_TYR | HIS |
8.3kJPN chr22:29737590 |
rs756098869
|
- | 0.0003 | - | |
568_GLY | SER |
8.3kJPN chr22:29737584 |
rs371236685
|
- | 0.0001 | - | |
579_SER | GLY |
gnomAD chr22:29737551 |
rs200628910
|
- | 0.000437595 | - | |
579_ASN | SER |
8.3kJPN chr17:33977748 |
rs377040347
|
- | 0.0001 | - | |
579_SER | GLY |
8.3kJPN chr22:29737551 |
rs200628910
|
- | 0.0011 | - |