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 | P01024 Q76U65 |
2 | P01024 |
3 | P01024 P00751 |
4 | P01024 P15529 |
5 | 7TV9 P01024 |
6 | P01024 6RU5 |
7 | P01024 P01024 |
8 | P01024 Q9Y279 |
9 | P01024 P01024 2WIN |
10 | Q931M7 P01024 P01024 |
11 | P01024 3G6J 3G6J |
12 | P01024 P01024 Q9Y279 |
13 | P01024 P08603 P08603 P05156 |
14 | P01024 P01024 P01024 P11215 |
Only interaction residues |
|
||||||||||||||||||||||
|
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 | - | |
66_PHE | LEU |
8.3kJPN chr19:6719225 |
-
|
- | 0.0001 | - | |
72_ARG | LYS |
8.3kJPN chr19:6718410 |
-
|
- | 0.0001 | - | |
80_ARG | GLY | VAR_001983 |
rs2230199
|
LB/B | - | - | |
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 | - | |
107_TYR | TER |
ClinVar chr19:6718304 |
rs2145436814
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
133_LYS | GLN | VAR_070941 |
rs147859257
|
LP/P | - | Macular degeneration, age-related, 9 (ARMD9) [MIM:611378] | |
133_LYS | GLN |
gnomAD chr19:6718146 |
rs147859257
|
- | 0.00279176 | - | |
139_ARG | TRP |
ClinVar chr19:6718128 |
rs776423109
|
Pathogenic | - | 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 | - | not provided [MedGen:C3661900] | |
175_GLU | GLN |
8.3kJPN chr19:6714373 |
-
|
- | 0.0001 | - | |
177_VAL | ILE |
8.3kJPN chr19:6714367 |
rs147549358
|
- | 0.0001 | - | |
200_PHE | LEU |
8.3kJPN chr19:6714193 |
-
|
- | 0.0001 | - | |
209_SER | ASN |
8.3kJPN chr19:6714084 |
rs1397744538
|
- | 0.0002 | - | |
222_TYR | TER |
ClinVar chr19:6714044 |
rs1967980468
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
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
|
LB/B | - | - | |
292_PRO | LEU |
gnomAD chr19:6713262 |
rs1047286
|
- | 0.141462 | - | |
304_VAL | MET |
8.3kJPN chr19:6713227 |
rs375264020
|
- | 0.0001 | - | |
364_ARG | TER |
ClinVar chr19:6712381 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
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
|
LB/B | - | - | |
447_GLU | ASP |
gnomAD chr19:6711070 |
rs11569422
|
- | 0.00333222 | - | |
481_ALA | VAL |
8.3kJPN chr19:6710828 |
rs781417846
|
- | 0.0004 | - | |
512_TYR | TER |
ClinVar chr19:6710734 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
527_ASP | ASN | VAR_001985 |
rs1449441916
|
LP/P | - | 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
|
LP/P | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
570_ARG | TRP | VAR_063214 |
rs771353792
|
LP/P | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] | |
570_ARG | GLN |
ClinVar chr19:6709765 |
rs121909583
|
Pathogenic/Likely pathogenic | - | 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 | - | 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 | - |