PDB ID | 2OK5
|
CHAIN | A |
---|---|---|---|
Protein name | Complement factor B | ||
Uniprot Accession | P00751 | ||
The number of similar proteins | 8 | ||
The number of binding states | 5 | ||
The number of binding partners | 6 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2OK5 (CHAIN: A) | |
1 | Monomeric state |
2 |
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3 |
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4 |
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5 |
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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 | |
---|---|---|---|---|---|---|---|
17_VAL | GLU |
8.3kJPN chr6:31914210 - |
- | 0.0001 | 0.2896 | - | |
49_ARG | HIS |
gnomAD chr6:31914306 rs117314762 |
- | 0.000770529 | 0.4734 | - | |
49_ARG | HIS |
8.3kJPN chr6:31914306 rs117314762 |
- | 0.02 | 0.4734 | - | |
118_ARG | CYS |
8.3kJPN chr6:31914912 rs1242945827 |
- | 0.0001 | 0.8373 | - | |
118_ARG | HIS |
8.3kJPN chr6:31914913 rs559980890 |
- | 0.0001 | 0.4667 | - | |
141_SER | PRO |
VAR_063659
- |
LP/P | - | 0.0393 | Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] | |
157_ARG | CYS |
8.3kJPN chr6:31915184 rs1446329739 |
- | 0.0001 | 0.4567 | - | |
178_ARG | GLN |
VAR_063660
rs745794224 |
LP/P | - | 0.4657 | Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] | |
189_THR | MET |
8.3kJPN chr6:31915281 rs761471751 |
- | 0.0001 | 0.1298 | - | |
201_THR | ILE |
8.3kJPN chr6:31915537 rs763140485 |
- | 0.0001 | 0.1872 | - | |
207_GLU | LYS |
8.3kJPN chr6:31915554 rs141965248 |
- | 0.0002 | 0.1055 | - | |
217_ILE | LEU |
VAR_063661
rs144812066 |
LP/P | - | 0.1484 | Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] | |
217_ILE | LEU |
gnomAD chr6:31915584 rs144812066 |
- | 0.000972262 | 0.1484 | - | |
217_ILE | THR |
8.3kJPN chr6:31915585 rs747955294 |
- | 0.0001 | 0.4222 | - | |
237_VAL | ILE |
8.3kJPN chr6:31915745 rs200645483 |
- | 0.0001 | 0.0704 | - | |
254_ASP | GLU |
gnomAD chr6:31915798 rs147564718 |
- | 0.000202812 | 0.2527 | - | |
256_ILE | THR |
8.3kJPN chr6:31915803 rs745324553 |
- | 0.0001 | 0.2711 | - | |
261_PHE | LEU |
VAR_063221
rs117905900 |
LP/P | - | 0.9765 | Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] | |
261_PHE | LEU |
ClinVar chr6:31915817 - |
Pathogenic | - | 0.9765 | CFB-related disorders [-] | |
278_TYR | CYS |
8.3kJPN chr6:31916161 - |
- | 0.0001 | 0.7346 | - | |
298_LYS | GLU |
VAR_063222
rs121909748 |
LP/P | - | 0.1691 | Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] | |
298_LYS | GLN |
VAR_063662
- |
LP/P | - | 0.1452 | Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] | |
301_GLU | ASP |
gnomAD chr6:31916231 rs140166479 |
- | 0.000712024 | 0.064 | - | |
306_ASN | ASP |
8.3kJPN chr6:31916244 rs776825572 |
- | 0.0012 | 0.0554 | - | |
311_THR | MET |
8.3kJPN chr6:31916260 rs534721289 |
- | 0.0001 | 0.0987 | - | |
353_ASN | THR |
gnomAD chr6:31916703 rs372853357 |
- | 0.000271016 | 0.428 | - | |
378_ASP | GLU |
8.3kJPN chr6:31917060 - |
- | 0.0001 | 0.0937 | - | |
390_ARG | CYS |
8.3kJPN chr6:31917094 rs535712398 |
- | 0.0001 | 0.4062 | - | |
392_ASN | SER |
8.3kJPN chr6:31917101 rs778914840 |
- | 0.0001 | 0.2019 | - | |
432_ASP | ASN |
8.3kJPN chr6:31917295 - |
- | 0.0001 | 0.1058 | - | |
433_MET | ILE |
VAR_063663
rs200837114 |
LP/P | - | 0.3775 | Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] | |
445_ASP | ASN |
8.3kJPN chr6:31917334 rs771402308 |
- | 0.0001 | 0.2607 | - | |
477_ILE | THR |
8.3kJPN chr6:31917923 rs765136717 |
- | 0.0001 | 0.0543 | - | |
485_SER | ARG |
8.3kJPN chr6:31918084 - |
- | 0.0001 | 0.2227 | - | |
508_LYS | ARG |
VAR_063664
rs149101394 |
LP/P | - | 0.0864 | Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] | |
508_LYS | ARG |
gnomAD chr6:31918154 rs149101394 |
- | 0.00907619 | 0.0864 | - | |
521_ARG | TRP |
8.3kJPN chr6:31918407 rs745920524 |
- | 0.0001 | 0.118 | - | |
540_LYS | GLU |
VAR_016277
rs4151659 |
LB/B | - | 0.1276 | - | |
540_LYS | GLU |
gnomAD chr6:31918464 rs4151659 |
- | 0.0107402 | 0.1276 | - | |
541_GLU | ALA |
gnomAD chr6:31918468 rs45484591 |
- | 0.0110888 | 0.05 | - | |
541_GLU | ALA |
8.3kJPN chr6:31918468 rs45484591 |
- | 0.0003 | 0.05 | - | |
545_PRO | SER |
8.3kJPN chr6:31918479 - |
- | 0.0001 | 0.0936 | - | |
592_GLN | HIS |
8.3kJPN chr6:31918717 - |
- | 0.0001 | 0.3015 | - | |
617_ARG | GLN |
8.3kJPN chr6:31918990 rs773667445 |
- | 0.0001 | 0.1127 | - | |
626_ASP | GLU |
VAR_016278
rs4151660 |
LB/B | - | 0.0834 | - | |
626_ASP | GLU |
gnomAD chr6:31919018 rs4151660 |
- | 0.00180321 | 0.0834 | - | |
631_CYS | GLY |
8.3kJPN chr6:31919127 - |
- | 0.0001 | 0.9783 | - | |
639_PRO | SER |
8.3kJPN chr6:31919151 - |
- | 0.0001 | 0.0869 | - | |
654_ARG | TRP |
8.3kJPN chr6:31919196 - |
- | 0.0001 | 0.5185 | - | |
691_VAL | LEU |
8.3kJPN chr6:31919658 rs777891193 |
- | 0.0004 | 0.4323 | - | |
711_ALA | SER |
VAR_006495
- |
LB/B | - | 0.0748 | - |