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 |
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2 | Monomeric state |
3 |
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4 |
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5 |
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6 |
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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 | |
---|---|---|---|---|---|---|---|
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] |