PDB ID | 2WII
|
CHAIN | A |
---|---|---|---|
Protein name | COMPLEMENT C3 BETA CHAIN | ||
Uniprot Accession | P01024 | ||
The number of similar proteins | 25 | ||
The number of binding states | 10 | ||
The number of binding partners | 11 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2WII (CHAIN: A) | |
1 |
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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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8 |
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9 |
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10 |
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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
1_SER | CYS |
8.3kJPN chr19:6720534 |
-
|
- | 0.0001 | - | |
36_THR | ILE |
8.3kJPN chr19:6719316 |
-
|
- | 0.0001 | - | |
38_HIS | GLN |
8.3kJPN chr19:6719309 |
-
|
- | 0.0001 | - | |
43_LYS | GLN |
ClinVar chr19:6719296 |
rs539992721
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
66_PHE | LEU |
8.3kJPN chr19:6719225 |
-
|
- | 0.0001 | - | |
72_ARG | LYS |
8.3kJPN chr19:6718410 |
-
|
- | 0.0001 | - | |
80_ARG | GLY | VAR_001983 |
rs2230199
|
Polymorphism | - | - | |
80_ARG | GLY |
gnomAD chr19:6718387 |
rs2230199
|
- | 0.15049 | - | |
80_ARG | CYS |
8.3kJPN chr19:6718387 |
-
|
- | 0.0001 | - | |
90_PHE | VAL |
8.3kJPN chr19:6718357 |
-
|
- | 0.0001 | - | |
100_LEU | PRO |
8.3kJPN chr19:6718326 |
rs768598098
|
- | 0.0004 | - | |
133_LYS | GLN | VAR_070941 |
rs147859257
|
Disease | - | Macular degeneration, age-related, 9 (ARMD9) [MIM:611378] | |
133_LYS | GLN |
gnomAD chr19:6718146 |
rs147859257
|
- | 0.00279176 | - | |
175_GLU | GLN |
8.3kJPN chr19:6714373 |
-
|
- | 0.0001 | - | |
177_VAL | ILE |
8.3kJPN chr19:6714367 |
rs147549358
|
- | 0.0001 | - | |
192_PRO | SER |
ClinVar chr19:6714219 |
rs794729228
|
Likely pathogenic | - | Atypical hemolytic-uremic syndrome 5 [MedGen:C2752037,OMIM:612925,Orphanet:ORPHA93575] | |
200_PHE | LEU |
8.3kJPN chr19:6714193 |
-
|
- | 0.0001 | - | |
209_SER | ASN |
8.3kJPN chr19:6714084 |
rs1397744538
|
- | 0.0002 | - | |
227_LYS | ARG |
8.3kJPN chr19:6714030 |
-
|
- | 0.001 | - | |
250_ILE | VAL |
8.3kJPN chr19:6713480 |
-
|
- | 0.0001 | - | |
253_ILE | THR |
8.3kJPN chr19:6713470 |
-
|
- | 0.0001 | - | |
292_PRO | LEU | VAR_001984 |
rs1047286
|
Polymorphism | - | - | |
292_PRO | LEU |
gnomAD chr19:6713262 |
rs1047286
|
- | 0.141462 | - | |
304_VAL | MET |
8.3kJPN chr19:6713227 |
rs375264020
|
- | 0.0001 | - | |
381_GLY | ARG |
8.3kJPN chr19:6712330 |
-
|
- | 0.0002 | - | |
403_ARG | CYS |
gnomAD chr19:6711204 |
rs200967589
|
- | 0.000222577 | - | |
403_ARG | CYS |
8.3kJPN chr19:6711204 |
rs200967589
|
- | 0.0011 | - | |
404_THR | MET |
8.3kJPN chr19:6711200 |
rs750670528
|
- | 0.0001 | - | |
427_VAL | MET |
8.3kJPN chr19:6711132 |
rs778633133
|
- | 0.0002 | - | |
429_ASN | SER |
8.3kJPN chr19:6711125 |
rs749155541
|
- | 0.0002 | - | |
432_ASN | LYS |
8.3kJPN chr19:6711115 |
-
|
- | 0.0001 | - | |
440_ARG | CYS |
8.3kJPN chr19:6711093 |
rs1406717691
|
- | 0.0001 | - | |
446_GLY | ARG |
8.3kJPN chr19:6711075 |
rs148820222
|
- | 0.0001 | - | |
447_GLU | ASP | VAR_020262 |
rs11569422
|
Polymorphism | - | - | |
447_GLU | ASP |
gnomAD chr19:6711070 |
rs11569422
|
- | 0.00333222 | - | |
481_ALA | VAL |
8.3kJPN chr19:6710828 |
rs781417846
|
- | 0.0004 | - | |
527_ASP | ASN | VAR_001985 |
rs1449441916
|
Disease | - | Complement component 3 deficiency (C3D) [MIM:613779] | |
527_ASP | ASN |
8.3kJPN chr19:6710691 |
rs1449441916
|
- | 0.0001 | - | |
535_ASP | ASN |
8.3kJPN chr19:6710667 |
-
|
- | 0.0001 | - | |
540_SER | LEU |
8.3kJPN chr19:6710651 |
rs200541526
|
- | 0.0048 | - | |
551_ARG | GLN |
8.3kJPN chr19:6709822 |
rs780877533
|
- | 0.0001 | - | |
570_ARG | GLN | VAR_063213 |
rs121909583
|
Disease | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
570_ARG | TRP | VAR_063214 |
rs771353792
|
Disease | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
581_PHE | VAL | VAR_063654 |
-
|
Disease | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
597_VAL | MET |
gnomAD chr19:6707931 |
rs146613648
|
- | 0.000299069 | - | |
603_ILE | PHE |
gnomAD chr19:6707913 |
rs144432231
|
- | 0.000430118 | - | |
611_LYS | ARG |
gnomAD chr19:6707888 |
rs140655115
|
- | 0.000441858 | - | |
614_ALA | SER |
8.3kJPN chr19:6707880 |
rs145886287
|
- | 0.0016 | - | |
615_GLY | ARG |
gnomAD chr19:6707877 |
rs149850773
|
- | 0.000238911 | - | |
620_ALA | SER |
8.3kJPN chr19:6707862 |
rs774155819
|
- | 0.0001 | - | |
625_THR | MET |
8.3kJPN chr19:6707846 |
rs1447175740
|
- | 0.0007 | - | |
630_GLN | PRO |
8.3kJPN chr19:6707831 |
rs748054406
|
- | 0.0002 | - | |
633_ALA | THR |
8.3kJPN chr19:6707823 |
rs1220580146
|
- | 0.0014 | - |