| PDB ID | 1BCC
|
CHAIN | E |
|---|---|---|---|
| Protein name | UBIQUINOL CYTOCHROME C OXIDOREDUCTASE | ||
| Uniprot Accession | P13272 | ||
| The number of similar proteins | 35 | ||
| The number of binding states | 6 | ||
| The number of binding partners | 6 | ||
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1BCC (CHAIN: E) | |
| 1 |
2BCC
2BCC
2BCC
P18946
2BCC
|
| 2 | Monomeric state |
| 3 |
P00157
|
| 4 |
P00130
P13271
P00125
P00157
P31800
P07552
|
| 5 |
P00130
P13271
P00125
P00157
P00157
P31800
|
| 6 |
P00130
P13271
P00125
P00157
P00157
P31800
P07552
|
|
Only interaction residues |
|
||||||||||
|
|
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 14_ARG | CYS |
gnomAD chr19:29699006 rs185606879 |
- | 0.000466184 | - | - | |
| 15_ARG | HIS |
8.3kJPN chr19:29699002 rs148167893 |
- | 0.0001 | - | - | |
| 15_ARG | CYS |
8.3kJPN chr19:29699003 rs201270947 |
- | 0.0002 | - | - | |
| 26_ARG | GLY |
8.3kJPN chr19:29698970 rs547606246 |
- | 0.0001 | - | - | |
| 37_TYR | CYS |
8.3kJPN chr19:29698936 rs1349344134 |
- | 0.0001 | - | - | |
| 48_ALA | THR |
gnomAD chr19:29698904 rs146164627 |
- | 0.000163427 | - | - | |
| 77_LYS | THR |
8.3kJPN chr19:29698816 rs201719321 |
- | 0.0071 | - | - | |
| 94_LYS | ARG |
8.3kJPN chr19:29698765 rs1316471601 |
- | 0.0001 | - | - | |
| 107_GLU | LYS |
8.3kJPN chr19:29698727 rs753161122 |
- | 0.0027 | - | - | |
| 126_ARG | TER |
ClinVar chr19:29698670 rs1242465339 |
Pathogenic | - | - | Lactic acidosis [Human Phenotype Ontology:HP:0003128,Human Phenotype Ontology:HP:0003255,Human Phenotype Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125]; Cardiomyopathy [Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848]; Propionic acidemia|Mitochondrial complex 3 deficiency, nuclear type 10 [Human Phenotype Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35|MONDO:MONDO:0032909,MedGen:C5394051,OMIM:618775] |