PDB ID | 1BCC
|
CHAIN | B |
---|---|---|---|
Protein name | UBIQUINOL CYTOCHROME C OXIDOREDUCTASE | ||
Uniprot Accession | P23004 | ||
The number of similar proteins | 38 | ||
The number of binding states | 3 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1BCC (CHAIN: B) | |
1 |
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2 |
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3 |
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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 | |
---|---|---|---|---|---|---|---|
52_LYS | GLN |
8.3kJPN chr16:21968816 - |
- | 0.0001 | - | - | |
62_ASN | SER |
8.3kJPN chr16:21968847 rs775768534 |
- | 0.0001 | - | - | |
70_ARG | HIS |
8.3kJPN chr16:21968871 rs371099781 |
- | 0.0001 | - | - | |
94_GLY | ASP |
ClinVar chr16:21969911 rs2141927529 |
Pathogenic | - | - | Mitochondrial complex III deficiency nuclear type 5 [MONDO:MONDO:0014066,MedGen:C3554608,OMIM:615160] | |
106_ALA | VAL |
8.3kJPN chr16:21973807 - |
- | 0.0002 | - | - | |
120_MET | ILE |
8.3kJPN chr16:21974094 rs898449154 |
- | 0.0001 | - | - | |
134_ARG | SER |
gnomAD chr16:21974134 rs2228473 |
- | 0.00606654 | - | - | |
134_ARG | HIS |
gnomAD chr16:21974135 rs781307417 |
- | 0.000175147 | - | - | |
144_LEU | ILE |
8.3kJPN chr16:21974164 - |
- | 0.0001 | - | - | |
155_PRO | LEU |
8.3kJPN chr16:21974198 rs1158265207 |
- | 0.0001 | - | - | |
165_ALA | VAL |
8.3kJPN chr16:21976750 rs139348570 |
- | 0.0001 | - | - | |
169_ARG | TRP |
ClinVar chr16:21976761 rs374661051 |
Pathogenic/Likely pathogenic | - | - | Mitochondrial complex III deficiency nuclear type 5|not provided [MONDO:MONDO:0014066,MedGen:C3554608,OMIM:615160|MedGen:C3661900] | |
169_ARG | GLN |
gnomAD chr16:21976762 rs4850 |
- | 0.039302 | - | - | |
183_ILE | PHE |
8.3kJPN chr16:21976803 - |
- | 0.0001 | - | - | |
195_VAL | ALA |
8.3kJPN chr16:21979962 - |
- | 0.0001 | - | - | |
208_GLY | ALA |
ClinVar chr16:21980001 rs1898386320 |
Pathogenic | - | - | Mitochondrial complex III deficiency nuclear type 5 [MONDO:MONDO:0014066,MedGen:C3554608,OMIM:615160] | |
210_GLY | ASP |
8.3kJPN chr16:21982846 - |
- | 0.0001 | - | - | |
225_ASN | SER |
8.3kJPN chr16:21982891 - |
- | 0.0003 | - | - | |
240_ARG | HIS |
gnomAD chr16:21982936 rs11863893 |
- | 0.0150379 | - | - | |
245_ARG | GLN |
8.3kJPN chr16:21983253 rs780855199 |
- | 0.0002 | - | - | |
259_ALA | THR |
8.3kJPN chr16:21983294 rs1324070596 |
- | 0.0001 | - | - | |
281_ALA | GLY |
8.3kJPN chr16:21983361 - |
- | 0.0001 | - | - | |
305_GLN | PRO |
8.3kJPN chr16:21983433 - |
- | 0.0001 | - | - | |
329_GLN | ARG |
gnomAD chr16:21985278 rs773330878 |
- | 0.000126147 | - | - | |
356_ASP | ASN |
8.3kJPN chr16:21987548 - |
- | 0.0001 | - | - | |
364_LEU | VAL |
8.3kJPN chr16:21991875 - |
- | 0.0001 | - | - | |
368_TYR | CYS |
gnomAD chr16:21991888 rs139312246 |
- | 0.000135333 | - | - | |
368_TYR | CYS |
8.3kJPN chr16:21991888 rs139312246 |
- | 0.0167 | - | - | |
388_VAL | ILE |
8.3kJPN chr16:21991947 rs1233348558 |
- | 0.0002 | - | - | |
403_ASP | GLU |
8.3kJPN chr16:21991994 - |
- | 0.0001 | - | - | |
405_VAL | MET |
8.3kJPN chr16:21991998 rs748748050 |
- | 0.0012 | - | - |