| 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 | ||
Coloring
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
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 22_LEU | PHE |
8.3kJPN chr22:29759069 - |
- | 0.0001 | 0.9988 | - | |
| 23_ASN | SER |
8.3kJPN chr17:33925279 - |
- | 0.0001 | 0.1783 | - | |
| 56_ASN | SER |
8.3kJPN chr22:29755925 rs1228125102 |
- | 0.0001 | 0.6245 | - | |
| 78_LYS | ARG |
8.3kJPN chr22:29755859 - |
- | 0.0001 | 0.3512 | - | |
| 86_MET | LEU |
8.3kJPN chr22:29755836 - |
- | 0.0001 | 0.5501 | - | |
| 108_ARG | TRP |
ClinVar chr22:29754918 rs1160266009 |
Pathogenic | - | 0.9998 | Autosomal recessive keratitis-ichthyosis-deafness syndrome [MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477] | |
| 114_ARG | GLN |
8.3kJPN chr17:33935222 - |
- | 0.0001 | 0.9897 | - | |
| 114_ARG | CYS |
8.3kJPN chr22:29754900 - |
- | 0.0001 | 0.9961 | - | |
| 141_ALA | VAL |
8.3kJPN chr22:29754818 - |
- | 0.0001 | 0.9982 | - | |
| 144_CYS | ARG |
VAR_083524
rs1602749299 |
LP/P | - | 0.9998 | Keratitis-ichthyosis-deafness syndrome, autosomal recessive (KIDAR) [MIM:242150] | |
| 144_CYS | ARG |
ClinVar chr22:29754810 rs1602749299 |
Pathogenic | - | 0.9998 | Autosomal recessive keratitis-ichthyosis-deafness syndrome [MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477] | |
| 181_VAL | ILE |
gnomAD chr17:33951431 rs180860333 |
- | 0.000772053 | 0.2605 | - | |
| 204_ILE | VAL |
8.3kJPN chr22:29752521 - |
- | 0.0001 | 0.0794 | - | |
| 205_ASN | SER |
8.3kJPN chr22:29752517 rs772647244 |
- | 0.0002 | 0.1262 | - | |
| 212_ASN | LYS |
8.3kJPN chr22:29752495 - |
- | 0.0001 | 0.9988 | - | |
| 222_ILE | VAL |
8.3kJPN chr17:33951554 rs757684565 |
- | 0.0001 | 0.407 | - | |
| 223_LEU | PRO |
ClinVar chr22:29752463 rs2147995205 |
Pathogenic | - | 0.9999 | Autosomal recessive keratitis-ichthyosis-deafness syndrome [MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477] | |
| 235_ARG | HIS |
gnomAD chr22:29752427 rs140871358 |
- | 0.000168094 | 0.4538 | - | |
| 235_ARG | HIS |
8.3kJPN chr22:29752427 rs140871358 |
- | 0.0001 | 0.4538 | - | |
| 273_ASP | TYR |
8.3kJPN chr17:33953740 - |
- | 0.0001 | 0.7709 | - | |
| 285_ALA | SER |
8.3kJPN chr22:29750724 - |
- | 0.0001 | 0.1744 | - | |
| 307_ASN | SER |
8.3kJPN chr22:29750657 rs747391498 |
- | 0.0001 | 0.2144 | - | |
| 319_HIS | GLN |
8.3kJPN chr22:29747796 - |
- | 0.0006 | 0.2656 | - | |
| 323_VAL | MET |
8.3kJPN chr22:29747786 - |
- | 0.0001 | 0.9657 | - | |
| 371_ARG | GLN |
8.3kJPN chr22:29747203 rs751083657 |
- | 0.0001 | 0.9789 | - | |
| 390_ARG | HIS |
8.3kJPN chr22:29746126 rs754230380 |
- | 0.0001 | 0.6139 | - | |
| 411_ILE | THR |
8.3kJPN chr17:33963436 - |
- | 0.0001 | 0.7588 | - | |
| 420_LYS | GLN |
8.3kJPN chr17:33963462 - |
- | 0.0001 | 0.9592 | - | |
| 420_LYS | THR |
8.3kJPN chr17:33963463 - |
- | 0.0001 | 0.9898 | - | |
| 420_LYS | ASN |
8.3kJPN chr17:33963464 - |
- | 0.0001 | 0.9986 | - | |
| 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 | 0.9825 | - | |
| 427_SER | GLY |
8.3kJPN chr17:33966621 - |
- | 0.0001 | 0.1579 | - | |
| 434_GLU | LYS |
8.3kJPN chr22:29745344 rs759728681 |
- | 0.0001 | 0.9296 | - | |
| 435_ASN | ASP |
8.3kJPN chr22:29745341 - |
- | 0.0001 | 0.9687 | - | |
| 446_ALA | THR |
gnomAD chr22:29745308 rs543593960 |
- | 0.000175152 | 0.8928 | - | |
| 448_MET | VAL |
8.3kJPN chr17:33966684 - |
- | 0.0002 | 0.7258 | - | |
| 462_ALA | PRO |
8.3kJPN chr17:33966726 - |
- | 0.0001 | 0.9948 | - | |
| 476_GLU | LYS |
8.3kJPN chr22:29745218 rs576191808 |
- | 0.0003 | - | - | |
| 534_PRO | THR |
8.3kJPN chr22:29737686 rs750013781 |
- | 0.0003 | 0.8753 | - | |
| 542_LEU | VAL |
8.3kJPN chr22:29737662 - |
- | 0.0001 | 0.7212 | - | |
| 551_GLU | ASP |
gnomAD chr22:29737633 rs200248984 |
- | 0.000298317 | 0.7758 | - | |
| 566_TYR | HIS |
8.3kJPN chr22:29737590 rs756098869 |
- | 0.0003 | 0.077 | - | |
| 568_GLY | SER |
8.3kJPN chr22:29737584 rs371236685 |
- | 0.0001 | 0.2957 | - | |
| 579_SER | GLY |
gnomAD chr22:29737551 rs200628910 |
- | 0.000437595 | 0.0699 | - | |
| 579_ASN | SER |
8.3kJPN chr17:33977748 rs377040347 |
- | 0.0001 | - | - | |
| 579_SER | GLY |
8.3kJPN chr22:29737551 rs200628910 |
- | 0.0011 | 0.0699 | - |