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 |
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 |
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
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 | - |