| PDB ID | 1BMF
|
CHAIN | A |
|---|---|---|---|
| Protein name | BOVINE MITOCHONDRIAL F1-ATPASE | ||
| Uniprot Accession | P19483 | ||
| The number of similar proteins | 89 | ||
| The number of binding states | 6 | ||
| The number of binding partners | 5 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1BMF (CHAIN: A) | |
| 1 |
P05631
P00829
P00829
|
| 2 | Monomeric state |
| 3 |
P35435
P10719
|
| 4 |
P01096
P05631
P00829
P00829
|
| 5 |
P05631
P00829
P00829
P13621
|
| 6 |
P05631
P00829
P00829
P13620
|
Downdload
Molecule viewer
|
Only interaction residues |
|
||||||||
|
Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 87_ILE | THR |
gnomAD chr18:43669883 rs563376014 |
- | 0.000127521 | - | - | |
| 96_ASP | GLY |
gnomAD chr18:43669856 rs148515768 |
- | 0.000469741 | - | - | |
| 105_GLY | ASP |
8.3kJPN chr18:43669829 - |
- | 0.0001 | - | - | |
| 106_ARG | HIS |
8.3kJPN chr18:43669826 rs751020903 |
- | 0.0001 | - | - | |
| 121_ILE | VAL |
8.3kJPN chr18:43669692 rs746703083 |
- | 0.0001 | - | - | |
| 125_THR | MET |
8.3kJPN chr18:43669679 rs144159915 |
- | 0.0002 | - | - | |
| 126_ARG | HIS |
8.3kJPN chr18:43669676 rs765711330 |
- | 0.0001 | - | - | |
| 131_LEU | VAL |
gnomAD chr18:43669662 rs11541929 |
- | 0.000111437 | - | - | |
| 152_ALA | ASP |
8.3kJPN chr18:43669598 - |
- | 0.0001 | - | - | |
| 152_ALA | THR |
8.3kJPN chr18:43669599 - |
- | 0.0001 | - | - | |
| 159_ILE | VAL |
8.3kJPN chr18:43669578 rs377180451 |
- | 0.0001 | - | - | |
| 164_ARG | HIS |
ClinVar chr18:43669562 rs1555695342 |
Pathogenic/Likely pathogenic | - | - | not provided|Lactic acidosis|Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A [MedGen:C3661900|Human Phenotype Ontology:HP:0003128,Human Phenotype Ontology:HP:0003255,Human Phenotype Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125|MONDO:MONDO:0957254,MedGen:C5830480,OMIM:620358] | |
| 180_ILE | VAL |
gnomAD chr18:43668207 rs77958705 |
- | 0.00786245 | - | - | |
| 202_ILE | THR |
8.3kJPN chr18:43668140 - |
- | 0.0001 | - | - | |
| 204_VAL | ILE |
gnomAD chr18:43668135 rs370646735 |
- | 0.000110344 | - | - | |
| 233_SER | LEU |
8.3kJPN chr18:43667431 rs778135381 |
- | 0.0002 | - | - | |
| 238_ASP | VAL |
8.3kJPN chr18:43667416 - |
- | 0.0001 | - | - | |
| 253_MET | VAL |
8.3kJPN chr18:43667372 - |
- | 0.0001 | - | - | |
| 278_TYR | CYS |
ClinVar chr18:43667188 rs587777788 |
Pathogenic | - | - | Combined oxidative phosphorylation deficiency 22 [MONDO:MONDO:0020727,MedGen:C4015062,OMIM:616045] | |
| 286_ARG | CYS |
ClinVar chr18:43667165 rs587776960 |
Pathogenic | - | - | Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 [MONDO:MONDO:0014091,MedGen:C3808899,OMIM:615228,Orphanet:254913] | |
| 331_ALA | VAL |
8.3kJPN chr18:43667029 - |
- | 0.0001 | - | - | |
| 362_ARG | CYS |
8.3kJPN chr18:43666424 rs201477144 |
- | 0.0006 | - | - | |
| 375_GLY | ARG |
ClinVar chr18:43666385 - |
Pathogenic | - | - | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A [MONDO:MONDO:0957254,MedGen:C5830480,OMIM:620358] | |
| 398_ARG | CYS |
8.3kJPN chr18:43666187 rs1248385107 |
- | 0.0001 | - | - | |
| 420_ARG | HIS |
8.3kJPN chr18:43666120 rs770585609 |
- | 0.0001 | - | - | |
| 422_VAL | MET |
8.3kJPN chr18:43666115 rs771547673 |
- | 0.0005 | - | - | |
| 481_GLY | ASP |
gnomAD chr18:43664479 rs775805857 |
- | 0.00028917 | - | - | |
| 492_GLN | ARG |
8.3kJPN chr18:43664306 - |
- | 0.0001 | - | - | |
| 498_LYS | GLU |
8.3kJPN chr18:43664289 - |
- | 0.0001 | - | - |