PDB ID | 1K8K
|
CHAIN | C |
---|---|---|---|
Protein name | ARP2/3 COMPLEX 41 KDA SUBUNIT | ||
Uniprot Accession | Q58CQ2 | ||
The number of similar proteins | 20 | ||
The number of binding states | 4 | ||
The number of binding partners | 5 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1K8K (CHAIN: C) | |
1 |
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2 |
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3 |
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4 |
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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 | |
---|---|---|---|---|---|---|---|
14_HIS | ASP |
8.3kJPN chr7:98983377 - |
- | 0.0002 | - | - | |
17_ASN | LYS |
gnomAD chr7:98983388 rs142972568 |
- | 0.000247999 | - | - | |
20_ARG | CYS |
gnomAD chr7:98983395 rs750614736 |
- | 0.000108304 | - | - | |
33_HIS | ARG |
gnomAD chr7:98984341 rs200838883 |
- | 0.00172455 | - | - | |
37_LYS | ASN |
gnomAD chr7:98984354 rs1045012 |
- | 0.0557211 | - | - | |
37_LYS | ASN |
8.3kJPN chr7:98984354 rs1045012 |
- | 0.0155 | - | - | |
66_ARG | GLY |
8.3kJPN chr7:98985688 - |
- | 0.0001 | - | - | |
77_TYR | TER |
ClinVar chr7:98985723 rs116204707 |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
96_ASN | SER |
gnomAD chr7:98985779 rs201019693 |
- | 0.000417777 | - | - | |
103_ARG | HIS |
8.3kJPN chr7:98985800 rs11556758 |
- | 0.0001 | - | - | |
104_TRP | SER |
ClinVar chr7:98985803 rs2150894118 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
105_ALA | VAL |
ClinVar chr7:98985806 rs1186149065 |
Pathogenic | - | - | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [MONDO:MONDO:0060583,MedGen:C4540232,OMIM:617718] | |
113_VAL | MET |
8.3kJPN chr7:98985829 - |
- | 0.0001 | - | - | |
144_THR | ILE |
8.3kJPN chr7:98987566 rs1346643217 |
- | 0.0001 | - | - | |
145_VAL | ILE |
8.3kJPN chr7:98987568 rs1192417300 |
- | 0.0001 | - | - | |
149_ASP | TYR |
gnomAD chr7:98987580 rs143427534 |
- | 0.000787615 | - | - | |
167_ARG | LEU |
8.3kJPN chr7:98987635 rs772757150 |
- | 0.0001 | - | - | |
168_ILE | LEU |
8.3kJPN chr7:98988517 - |
- | 0.0001 | - | - | |
180_PRO | LEU |
8.3kJPN chr7:98988554 rs759537436 |
- | 0.0001 | - | - | |
196_PHE | LEU |
8.3kJPN chr7:98988603 - |
- | 0.0001 | - | - | |
208_VAL | PHE |
ClinVar chr7:98988637 rs371760619 |
Pathogenic | - | - | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [MONDO:MONDO:0060583,MedGen:C4540232,OMIM:617718] | |
208_VAL | ILE |
8.3kJPN chr7:98988637 rs371760619 |
- | 0.0002 | - | - | |
216_ARG | HIS |
8.3kJPN chr7:98988662 rs760543643 |
- | 0.0002 | - | - | |
226_VAL | ILE |
gnomAD chr7:98988691 rs756502444 |
- | 0.000255902 | - | - | |
226_VAL | ILE |
8.3kJPN chr7:98988691 rs756502444 |
- | 0.0002 | - | - | |
232_ASP | ASN |
gnomAD chr7:98988709 rs149569034 |
- | 0.000100397 | - | - | |
237_VAL | ILE |
8.3kJPN chr7:98988802 rs776539765 |
- | 0.0001 | - | - | |
238_ALA | THR |
gnomAD chr7:98988805 rs147238850 |
- | 0.000135494 | - | - | |
261_ALA | ALA |
ClinVar chr7:98988876 rs779597975 |
Pathogenic | - | - | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease|not provided [MONDO:MONDO:0060583,MedGen:C4540232,OMIM:617718|MedGen:C3661900] | |
275_ALA | THR |
gnomAD chr7:98990333 rs780469495 |
- | 0.000146319 | - | - | |
276_ALA | THR |
gnomAD chr7:98990336 rs780914634 |
- | 0.000145845 | - | - | |
278_MET | ILE |
gnomAD chr7:98990344 rs200163199 |
- | 0.000296241 | - | - | |
280_SER | THR |
8.3kJPN chr7:98990349 - |
- | 0.0001 | - | - | |
350_MET | ARG |
gnomAD chr7:98991711 rs151225927 |
- | 0.000708937 | - | - | |
359_VAL | MET |
8.3kJPN chr7:98991737 rs765193066 |
- | 0.0005 | - | - | |
364_SER | LEU |
gnomAD chr7:98992084 rs144187782 |
- | 0.00155214 | - | - | |
370_LYS | ARG |
gnomAD chr7:98992102 rs761120674 |
- | 0.000139433 | - | - |