| PDB ID | 2XND
|
CHAIN | J |
|---|---|---|---|
| Protein name | ATP SYNTHASE LIPID-BINDING PROTEIN, MITOCHONDRIAL | ||
| Uniprot Accession | P32876 | ||
| The number of similar proteins | 8 | ||
| The number of binding states | 5 | ||
| The number of binding partners | 4 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 2XND (CHAIN: J) | |
| 1 |
P32876
P32876
P05631
|
| 2 |
P32876
P32876
|
| 3 |
P32876
P32876
P05632
|
| 4 |
P32876
P32876
P05630
|
| 5 |
P32876
P32876
P05630
P05631
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 6_ALA | THR |
8.3kJPN chr12:54063029 - |
- | 0.0005 | - | - | |
| 12_GLY | VAL |
ClinVar chr2:176043863 - |
Pathogenic | - | - | Dystonia, early-onset, and/or spastic paraplegia [MONDO:MONDO:0859215,MedGen:C5562051,OMIM:619681] | |
| 14_ALA | PRO |
8.3kJPN chr17:46972623 - |
- | 0.0001 | - | - | |
| 28_VAL | ALA |
8.3kJPN chr17:46972666 rs1483214161 |
- | 0.0001 | - | - | |
| 39_ASN | LYS |
ClinVar chr2:176043127 rs757411192 |
Likely pathogenic | - | - | ATP5G3-associated disorder|Dystonia, early-onset, and/or spastic paraplegia [|MONDO:MONDO:0859215,MedGen:C5562051,OMIM:619681] | |
| 40_PRO | ALA |
ClinVar chr2:176043126 - |
Pathogenic | - | - | Dystonia, early-onset, and/or spastic paraplegia [MONDO:MONDO:0859215,MedGen:C5562051,OMIM:619681] | |
| 41_SER | PRO |
gnomAD chr17:46973024 rs145199121 |
- | 0.000139274 | - | - | |
| 42_LEU | PHE |
8.3kJPN chr17:46973027 - |
- | 0.0001 | - | - | |
| 50_ALA | THR |
8.3kJPN chr12:54059178 rs374457649 |
- | 0.0001 | - | - | |
| 56_LEU | PHE |
8.3kJPN chr12:54059160 - |
- | 0.0001 | - | - | |
| 68_ALA | VAL |
8.3kJPN chr2:176043041 - |
- | 0.0001 | - | - | |
| 68_ALA | THR |
8.3kJPN chr17:46973105 rs753944444 |
- | 0.0001 | - | - | |
| 70_LEU | PRO |
8.3kJPN chr12:54059117 - |
- | 0.0001 | - | - |