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 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1BMF (CHAIN: A) | |
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) |
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 | - |