PDB ID | 2WII
|
CHAIN | A |
---|---|---|---|
Protein name | COMPLEMENT C3 BETA CHAIN | ||
Uniprot Accession | P01024 | ||
The number of similar proteins | 32 | ||
The number of binding states | 14 | ||
The number of binding partners | 14 |
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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11 |
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12 |
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13 |
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14 |
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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 | |
---|---|---|---|---|---|---|---|
1_SER | CYS |
8.3kJPN chr19:6720534 - |
- | 0.0001 | 0.21 | - | |
36_THR | ILE |
8.3kJPN chr19:6719316 - |
- | 0.0001 | 0.1568 | - | |
38_HIS | GLN |
8.3kJPN chr19:6719309 - |
- | 0.0001 | 0.1383 | - | |
66_PHE | LEU |
8.3kJPN chr19:6719225 - |
- | 0.0001 | 0.5809 | - | |
72_ARG | LYS |
8.3kJPN chr19:6718410 - |
- | 0.0001 | 0.0617 | - | |
80_ARG | GLY |
VAR_001983
rs2230199 |
LB/B | - | 0.0748 | - | |
80_ARG | GLY |
gnomAD chr19:6718387 rs2230199 |
- | 0.15049 | 0.0748 | - | |
80_ARG | CYS |
8.3kJPN chr19:6718387 - |
- | 0.0001 | 0.2167 | - | |
90_PHE | VAL |
8.3kJPN chr19:6718357 - |
- | 0.0001 | 0.6925 | - | |
100_LEU | PRO |
8.3kJPN chr19:6718326 rs768598098 |
- | 0.0004 | 0.3104 | - | |
107_TYR | TER |
ClinVar chr19:6718304 rs2145436814 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
133_LYS | GLN |
VAR_070941
rs147859257 |
LP/P | - | 0.092 | Macular degeneration, age-related, 9 (ARMD9) [MIM:611378] | |
133_LYS | GLN |
gnomAD chr19:6718146 rs147859257 |
- | 0.00279176 | 0.092 | - | |
139_ARG | TRP |
ClinVar chr19:6718128 rs776423109 |
Pathogenic | - | 0.1851 | not provided|Atypical hemolytic-uremic syndrome with C3 anomaly [MedGen:C3661900|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925,Orphanet:2134] | |
140_THR | ARG |
ClinVar chr19:6718124 - |
Likely pathogenic | - | 0.0928 | not provided [MedGen:C3661900] | |
175_GLU | GLN |
8.3kJPN chr19:6714373 - |
- | 0.0001 | 0.1502 | - | |
177_VAL | ILE |
8.3kJPN chr19:6714367 rs147549358 |
- | 0.0001 | 0.1213 | - | |
200_PHE | LEU |
8.3kJPN chr19:6714193 - |
- | 0.0001 | 0.9873 | - | |
209_SER | ASN |
8.3kJPN chr19:6714084 rs1397744538 |
- | 0.0002 | 0.5948 | - | |
222_TYR | TER |
ClinVar chr19:6714044 rs1967980468 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
227_LYS | ARG |
8.3kJPN chr19:6714030 - |
- | 0.001 | 0.0842 | - | |
250_ILE | VAL |
8.3kJPN chr19:6713480 - |
- | 0.0001 | 0.259 | - | |
253_ILE | THR |
8.3kJPN chr19:6713470 - |
- | 0.0001 | 0.7388 | - | |
292_PRO | LEU |
VAR_001984
rs1047286 |
LB/B | - | 0.1183 | - | |
292_PRO | LEU |
gnomAD chr19:6713262 rs1047286 |
- | 0.141462 | 0.1183 | - | |
304_VAL | MET |
8.3kJPN chr19:6713227 rs375264020 |
- | 0.0001 | 0.527 | - | |
364_ARG | TER |
ClinVar chr19:6712381 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
381_GLY | ARG |
8.3kJPN chr19:6712330 - |
- | 0.0002 | 0.1026 | - | |
403_ARG | CYS |
gnomAD chr19:6711204 rs200967589 |
- | 0.000222577 | 0.248 | - | |
403_ARG | CYS |
8.3kJPN chr19:6711204 rs200967589 |
- | 0.0011 | 0.248 | - | |
404_THR | MET |
8.3kJPN chr19:6711200 rs750670528 |
- | 0.0001 | 0.5592 | - | |
427_VAL | MET |
8.3kJPN chr19:6711132 rs778633133 |
- | 0.0002 | 0.0696 | - | |
429_ASN | SER |
8.3kJPN chr19:6711125 rs749155541 |
- | 0.0002 | 0.0882 | - | |
432_ASN | LYS |
8.3kJPN chr19:6711115 - |
- | 0.0001 | 0.9033 | - | |
440_ARG | CYS |
8.3kJPN chr19:6711093 rs1406717691 |
- | 0.0001 | 0.4336 | - | |
446_GLY | ARG |
8.3kJPN chr19:6711075 rs148820222 |
- | 0.0001 | 0.3297 | - | |
447_GLU | ASP |
VAR_020262
rs11569422 |
LB/B | - | 0.0785 | - | |
447_GLU | ASP |
gnomAD chr19:6711070 rs11569422 |
- | 0.00333222 | 0.0785 | - | |
481_ALA | VAL |
8.3kJPN chr19:6710828 rs781417846 |
- | 0.0004 | 0.0784 | - | |
512_TYR | TER |
ClinVar chr19:6710734 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
527_ASP | ASN |
VAR_001985
rs1449441916 |
LP/P | - | 0.8556 | Complement component 3 deficiency (C3D) [MIM:613779] | |
527_ASP | ASN |
8.3kJPN chr19:6710691 rs1449441916 |
- | 0.0001 | 0.8556 | - | |
535_ASP | ASN |
8.3kJPN chr19:6710667 - |
- | 0.0001 | 0.528 | - | |
540_SER | LEU |
8.3kJPN chr19:6710651 rs200541526 |
- | 0.0048 | 0.1318 | - | |
551_ARG | GLN |
8.3kJPN chr19:6709822 rs780877533 |
- | 0.0001 | 0.0847 | - | |
570_ARG | GLN |
VAR_063213
rs121909583 |
LP/P | - | 0.1079 | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
570_ARG | TRP |
VAR_063214
rs771353792 |
LP/P | - | 0.21 | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
570_ARG | GLN |
ClinVar chr19:6709765 rs121909583 |
Pathogenic/Likely pathogenic | - | 0.1079 | Atypical hemolytic-uremic syndrome with C3 anomaly|not provided|Familial Atypical Hemolytic-Uremic Syndrome|Complement component 3 deficiency [MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925,Orphanet:2134|MedGen:C3661900|MedGen:C4055018|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779,Orphanet:280133]; Atypical hemolytic-uremic syndrome with C3 anomaly [MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925,Orphanet:2134]; Age related macular degeneration 9 [MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378] | |
581_PHE | VAL |
VAR_063654
- |
LP/P | - | 0.5059 | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
597_VAL | MET |
gnomAD chr19:6707931 rs146613648 |
- | 0.000299069 | 0.0899 | - | |
603_ILE | PHE |
gnomAD chr19:6707913 rs144432231 |
- | 0.000430118 | 0.1801 | - | |
611_LYS | ARG |
gnomAD chr19:6707888 rs140655115 |
- | 0.000441858 | 0.0721 | - | |
614_ALA | SER |
8.3kJPN chr19:6707880 rs145886287 |
- | 0.0016 | 0.1102 | - | |
615_GLY | ARG |
gnomAD chr19:6707877 rs149850773 |
- | 0.000238911 | 0.5406 | - | |
620_ALA | SER |
8.3kJPN chr19:6707862 rs774155819 |
- | 0.0001 | 0.2472 | - | |
625_THR | MET |
8.3kJPN chr19:6707846 rs1447175740 |
- | 0.0007 | 0.0865 | - | |
630_GLN | PRO |
8.3kJPN chr19:6707831 rs748054406 |
- | 0.0002 | 0.2162 | - | |
633_ALA | THR |
8.3kJPN chr19:6707823 rs1220580146 |
- | 0.0014 | 0.075 | - |