PDB ID | 1SZ7
|
CHAIN | A |
---|---|---|---|
Protein name | Trafficking protein particle complex subunit 3 | ||
Uniprot Accession | O43617 | ||
The number of similar proteins | 10 | ||
The number of binding states | 5 | ||
The number of binding partners | 5 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1SZ7 (CHAIN: A) | |
1 | Monomeric state |
2 |
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3 |
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4 |
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5 |
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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 | |
---|---|---|---|---|---|---|---|
62_ARG | TRP |
ClinVar chr1:36605377 rs751375244 |
Likely pathogenic | - | 0.9017 | Bardet-Biedl syndrome [MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110] | |
62_ARG | PRO |
8.3kJPN chr1:36605376 - |
- | 0.0001 | 0.9968 | - | |
76_ASP | GLY |
8.3kJPN chr1:36605334 - |
- | 0.0001 | 0.8155 | - | |
92_SER | GLY |
gnomAD chr1:36603546 rs138894050 |
- | 0.0002387 | 0.095 | - | |
129_ASN | SER |
8.3kJPN chr1:36603434 rs758862062 |
- | 0.0001 | 0.0492 | - | |
131_LEU | PHE |
gnomAD chr1:36603427 rs141225393 |
- | 0.000175 | 0.3276 | - |