| 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 |
P13272
|
| 2 |
P31800
P13272
|
| 3 |
P23004
P31800
P13272
P00129
|
|
Only interaction residues |
|
||||||||||
|
|
| 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 | - | - |