PDB ID | 2BP5
|
CHAIN | M |
---|---|---|---|
Protein name | CLATHRIN COAT ASSEMBLY PROTEIN AP50 | ||
Uniprot Accession | P84092 | ||
The number of similar proteins | 16 | ||
The number of binding states | 7 | ||
The number of binding partners | 5 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2BP5 (CHAIN: M) | |
1 | Monomeric state |
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 | |
---|---|---|---|---|---|---|---|
170_ARG | TRP |
ClinVar chr3:183898715 rs1577059692 |
Pathogenic/Likely pathogenic | - | - | not provided|Intellectual developmental disorder 60 with seizures|Seizure [MedGen:C3661900|MONDO:MONDO:0032823,MedGen:C5231497,OMIM:618587|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]; Autism [Human Phenotype Ontology:HP:0000717,MONDO:MONDO:0005260,MedGen:C0004352,OMIM:209850]; Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756] | |
313_PRO | ALA |
8.3kJPN chr3:183899809 rs1360424786 |
- | 0.0002 | - | - | |
335_VAL | ALA |
8.3kJPN chr3:183899979 - |
- | 0.0001 | - | - |