PDB ID | 3PRX | CHAIN | A |
---|---|---|---|
Protein name | Complement C5 | ||
Uniprot Accession | P01031 | ||
The number of similar proteins | 11 | ||
The number of binding states | 10 | ||
The number of binding partners | 9 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3PRX (CHAIN: A) | |
1 | Q91132 D3JIB2 |
2 | Monomeric state |
3 | Q91132 |
4 | P01031 |
5 | Q6GJP2 |
6 | A6QE84 |
7 | P13671 |
8 | 5I5K 5I5K |
9 | P01031 7AD6 |
10 | P01031 7AD7 |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
49_ALA | VAL |
8.3kJPN chr9:123808581 |
-
|
- | 0.0001 | - | |
72_HIS | ASN |
8.3kJPN chr9:123808513 |
rs1239344218
|
- | 0.0007 | - | |
76_GLU | ASP |
8.3kJPN chr9:123808499 |
-
|
- | 0.0001 | - | |
108_SER | TER |
8.3kJPN chr9:123805380 |
-
|
- | 0.0001 | - | |
110_HIS | ASN |
gnomAD chr9:123805375 |
rs143947726
|
- | 0.000358594 | - | |
145_VAL | ILE | VAR_038735 |
rs17216529
|
LB/B | - | - | |
145_VAL | ILE |
gnomAD chr9:123800218 |
rs17216529
|
- | 0.0779188 | - | |
145_VAL | ILE |
8.3kJPN chr9:123800218 |
rs17216529
|
- | 0.2014 | - | |
164_ILE | LYS |
8.3kJPN chr9:123800160 |
-
|
- | 0.0001 | - | |
171_VAL | ALA |
8.3kJPN chr9:123797153 |
rs185695138
|
- | 0.0013 | - | |
176_GLU | TER |
ClinVar chr9:123797139 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
238_ILE | THR |
8.3kJPN chr9:123792720 |
rs567288479
|
- | 0.0001 | - | |
238_ILE | VAL |
8.3kJPN chr9:123792721 |
-
|
- | 0.0001 | - | |
239_GLY | SER |
gnomAD chr9:123792718 |
rs369524514
|
- | 0.000692156 | - | |
252_ALA | THR |
gnomAD chr9:123792679 |
rs112959008
|
- | 0.000320111 | - | |
265_VAL | ILE |
8.3kJPN chr9:123789518 |
rs148539497
|
- | 0.0001 | - | |
274_ASP | GLY |
8.3kJPN chr9:123789490 |
-
|
- | 0.0002 | - | |
277_ASP | GLY |
8.3kJPN chr9:123789481 |
rs1462885944
|
- | 0.0001 | - | |
280_LYS | ASN |
8.3kJPN chr9:123789471 |
-
|
- | 0.0012 | - | |
281_GLU | ASP |
8.3kJPN chr9:123789468 |
rs201821112
|
- | 0.0001 | - | |
294_ASN | LYS |
gnomAD chr9:123787850 |
rs774028867
|
- | 0.00015167 | - | |
297_ALA | VAL |
8.3kJPN chr9:123787842 |
rs1269751460
|
- | 0.0001 | - | |
298_GLN | GLU |
gnomAD chr9:123787840 |
rs149346283
|
- | 0.000111674 | - | |
330_ILE | THR |
gnomAD chr9:123787743 |
rs147430470
|
- | 0.000620093 | - | |
339_GLU | GLY |
8.3kJPN chr9:123785782 |
-
|
- | 0.0005 | - | |
354_LEU | MET | VAR_048822 |
rs34552775
|
LB/B | - | - | |
354_LEU | MET |
gnomAD chr9:123785738 |
rs34552775
|
- | 0.00529656 | - | |
372_LYS | ARG |
ClinVar chr9:123785683 |
rs587776846
|
Pathogenic | - | Complement component 5 deficiency [MONDO:MONDO:0012295,MedGen:C0343047,OMIM:609536] | |
389_THR | ILE | VAR_023946 |
-
|
LB/B | - | - | |
390_LEU | VAL |
8.3kJPN chr9:123783921 |
rs763556527
|
- | 0.0001 | - | |
405_ASP | HIS |
8.3kJPN chr9:123783876 |
-
|
- | 0.0002 | - | |
417_VAL | ALA |
8.3kJPN chr9:123783839 |
-
|
- | 0.0001 | - | |
429_THR | LYS |
gnomAD chr9:123783803 |
rs145461325
|
- | 0.000338061 | - | |
429_THR | MET |
8.3kJPN chr9:123783803 |
rs145461325
|
- | 0.0001 | - | |
449_ARG | GLY | VAR_038736 |
rs2230213
|
LB/B | - | - | |
449_ARG | GLY |
gnomAD chr9:123782415 |
rs2230213
|
- | 0.0073537 | - | |
451_GLY | VAL |
8.3kJPN chr9:123782408 |
rs56188613
|
- | 0.0089 | - | |
469_TRP | TER |
ClinVar chr9:123782353 |
rs1408798589
|
Pathogenic/Likely pathogenic | - | not provided|Eculizumab, poor response to [MedGen:C3661900|MedGen:C3810402,OMIM:615749]; Complement component 5 deficiency [MONDO:MONDO:0012295,MedGen:C0343047,OMIM:609536] | |
473_HIS | ARG |
gnomAD chr9:123782342 |
rs78640581
|
- | 0.000230679 | - | |
475_ALA | VAL |
gnomAD chr9:123782336 |
rs151271738
|
- | 0.000163072 | - | |
493_ILE | MET |
8.3kJPN chr9:123782281 |
-
|
- | 0.0001 | - | |
506_LYS | GLN |
8.3kJPN chr9:123780121 |
-
|
- | 0.0001 | - | |
512_PHE | LEU |
8.3kJPN chr9:123780103 |
-
|
- | 0.0001 | - | |
514_THR | MET |
8.3kJPN chr9:123780096 |
rs199664327
|
- | 0.003 | - | |
515_ARG | LYS |
8.3kJPN chr9:123780093 |
rs1423414968
|
- | 0.0001 | - | |
518_PHE | SER | VAR_001996 |
-
|
LB/B | - | - | |
560_TRP | TER |
ClinVar chr9:123779957 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
571_LEU | VAL |
gnomAD chr9:123779926 |
rs147226792
|
- | 0.000223104 | - | |
572_GLN | ARG |
8.3kJPN chr9:123779922 |
-
|
- | 0.0001 | - | |
599_TRP | TER |
8.3kJPN chr9:123779709 |
-
|
- | 0.0001 | - | |
600_VAL | GLU |
8.3kJPN chr9:123779707 |
-
|
- | 0.0001 | - | |
605_VAL | LEU |
8.3kJPN chr9:123779693 |
-
|
- | 0.0001 | - | |
606_ASP | ASN |
gnomAD chr9:123779690 |
rs775286780
|
- | 0.000214925 | - | |
647_HIS | GLN |
gnomAD chr9:123778587 |
rs202080772
|
- | 0.000178981 | - | |
647_HIS | GLN |
8.3kJPN chr9:123778587 |
rs202080772
|
- | 0.0004 | - | |
673_LEU | ILE |
gnomAD chr9:123777519 |
rs369245774
|
- | 0.000184003 | - | |
701_ASP | ASN |
8.3kJPN chr9:123776307 |
rs187925604
|
- | 0.0001 | - | |
714_ARG | TER |
8.3kJPN chr9:123776268 |
-
|
- | 0.0001 | - | |
734_VAL | ILE |
8.3kJPN chr9:123776208 |
rs771791383
|
- | 0.0005 | - | |
756_THR | ILE |
8.3kJPN chr9:123770767 |
rs1456300999
|
- | 0.0003 | - | |
802_VAL | ILE | VAR_014574 |
rs17611
|
LB/B | - | - | |
802_VAL | ILE |
gnomAD chr9:123769200 |
rs17611
|
- | 0.471368 | - | |
802_VAL | ILE |
8.3kJPN chr9:123769200 |
rs17611
|
- | 0.5195 | - | |
809_ILE | VAL |
8.3kJPN chr9:123768334 |
rs750127089
|
- | 0.0001 | - | |
885_ARG | CYS | VAR_071067 |
rs373359894
|
LB/B | - | - | |
885_ARG | HIS | VAR_071068 |
rs56040400
|
LB/B | - | - | |
885_ARG | HIS |
gnomAD chr9:123759961 |
rs56040400
|
- | 0.00032607 | - | |
885_ARG | HIS |
8.3kJPN chr9:123759961 |
rs56040400
|
- | 0.019 | - | |
907_LEU | PHE |
8.3kJPN chr9:123759896 |
rs772788429
|
- | 0.0009 | - | |
928_ARG | GLN | VAR_038737 |
rs41309892
|
LB/B | - | - | |
928_ARG | TER |
ClinVar chr9:123759833 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
928_ARG | GLN |
gnomAD chr9:123759832 |
rs41309892
|
- | 0.0022379 | - | |
933_GLY | VAL | VAR_038738 |
rs41309902
|
LB/B | - | - | |
965_LEU | TER |
ClinVar chr9:123753516 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
966_ASP | TYR | VAR_048823 |
rs2230212
|
LB/B | - | - | |
966_ASP | TYR |
gnomAD chr9:123753514 |
rs2230212
|
- | 0.00474118 | - | |
966_ASP | TYR |
8.3kJPN chr9:123753514 |
rs2230212
|
- | 0.0317 | - | |
1006_GLY | ALA |
8.3kJPN chr9:123751983 |
rs754352144
|
- | 0.0005 | - | |
1010_ALA | VAL |
gnomAD chr9:123751971 |
rs34362143
|
- | 0.000703928 | - | |
1011_GLU | ASP |
gnomAD chr9:123751967 |
rs150096192
|
- | 0.000906719 | - | |
1015_VAL | ILE |
8.3kJPN chr9:123751957 |
rs765069093
|
- | 0.0001 | - | |
1033_ILE | THR | VAR_038739 |
rs41311881
|
LB/B | - | - | |
1033_ILE | THR |
gnomAD chr9:123751902 |
rs41311881
|
- | 0.00120578 | - | |
1037_ASP | ASN | VAR_038740 |
rs41311883
|
LB/B | - | - | |
1043_GLN | LYS | VAR_038741 |
rs41311887
|
LB/B | - | - | |
1043_GLN | LYS |
gnomAD chr9:123751873 |
rs41311887
|
- | 0.00493069 | - | |
1053_MET | LEU | VAR_014575 |
rs17609
|
LB/B | - | - | |
1119_LYS | ARG |
gnomAD chr9:123744967 |
rs142341763
|
- | 0.000211822 | - | |
1138_ARG | GLN |
gnomAD chr9:123744195 |
rs779879112
|
- | 0.000210836 | - | |
1155_ALA | THR |
gnomAD chr9:123744145 |
rs200624729
|
- | 0.000282457 | - | |
1183_GLN | ARG |
8.3kJPN chr9:123742471 |
-
|
- | 0.0001 | - | |
1214_ARG | LYS |
gnomAD chr9:123742378 |
rs150470491
|
- | 0.000262448 | - | |
1257_THR | SER |
gnomAD chr9:123739072 |
rs141704823
|
- | 0.000512996 | - | |
1291_ILE | VAL |
gnomAD chr9:123737203 |
rs200674959
|
- | 0.00025848 | - | |
1310_SER | ASN | VAR_014576 |
rs17610
|
LB/B | - | - | |
1310_SER | ASN |
gnomAD chr9:123737145 |
rs17610
|
- | 0.00727767 | - | |
1314_ASP | ASN |
gnomAD chr9:123737134 |
rs771283592
|
- | 0.000119307 | - | |
1320_LYS | GLN |
8.3kJPN chr9:123737116 |
-
|
- | - | - | |
1325_ASN | SER |
8.3kJPN chr9:123737100 |
-
|
- | 0.0001 | - | |
1336_ARG | LYS |
8.3kJPN chr9:123737067 |
-
|
- | 0.0002 | - | |
1365_VAL | ALA | VAR_048824 |
rs16910245
|
LB/B | - | - | |
1402_ILE | VAL |
gnomAD chr9:123731355 |
rs142459293
|
- | 0.000469442 | - | |
1405_CYS | ARG |
8.3kJPN chr9:123731346 |
rs753067140
|
- | 0.0001 | - | |
1437_GLU | ASP | VAR_014577 |
rs17612
|
LB/B | - | - | |
1437_GLU | ASP |
gnomAD chr9:123725926 |
rs17612
|
- | 0.0536851 | - | |
1437_GLU | ASP |
8.3kJPN chr9:123725926 |
rs17612
|
- | 0.0003 | - | |
1454_GLN | ARG |
8.3kJPN chr9:123725208 |
-
|
- | 0.0001 | - | |
1476_ARG | TER |
ClinVar chr9:123725027 |
rs121909588
|
Pathogenic | - | Complement component 5 deficiency|not provided|Eculizumab, poor response to [MONDO:MONDO:0012295,MedGen:C0343047,OMIM:609536|MedGen:C3661900|MedGen:C3810402,OMIM:615749]; Complement component 5 deficiency [MONDO:MONDO:0012295,MedGen:C0343047,OMIM:609536] | |
1478_ARG | TRP |
gnomAD chr9:123725021 |
rs138933092
|
- | 0.000143262 | - | |
1478_ARG | TRP |
8.3kJPN chr9:123725021 |
rs138933092
|
- | 0.0005 | - | |
1499_HIS | GLN |
8.3kJPN chr9:123724956 |
-
|
- | 0.0001 | - | |
1538_GLU | TER |
8.3kJPN chr9:123722592 |
-
|
- | 0.0001 | - | |
1540_ASP | ASN |
8.3kJPN chr9:123722586 |
rs755260495
|
- | 0.0004 | - | |
1556_GLU | GLY |
gnomAD chr9:123722537 |
rs201704886
|
- | 0.000211261 | - | |
1610_GLU | GLY |
8.3kJPN chr9:123716080 |
-
|
- | 0.0001 | - | |
1654_CYS | ARG |
8.3kJPN chr9:123715088 |
rs748755309
|
- | 0.0001 | - | |
1662_ALA | VAL |
8.3kJPN chr9:123715063 |
-
|
- | 0.0001 | - | |
1670_ASP | HIS |
8.3kJPN chr9:123715040 |
rs761048515
|
- | 0.0006 | - |