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) |
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] |