| PDB ID | 2DNE
|
CHAIN | A |
|---|---|---|---|
| Protein name | Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex | ||
| Uniprot Accession | P10515 | ||
| The number of similar proteins | 1 | ||
| The number of binding states | 1 | ||
| The number of binding partners | 0 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 2DNE (CHAIN: A) | |
| 1 | Monomeric state |
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
|---|---|---|---|---|---|---|---|
| 10_VAL | LEU |
8.3kJPN chr11:111896922 |
rs781796716
|
- | 0.0002 | - | |
| 14_SER | PHE | VAR_047411 |
rs537057
|
LB/B | - | - | |
| 15_LEU | PHE | VAR_047412 |
rs537060
|
LB/B | - | - | |
| 19_MET | VAL |
8.3kJPN chr11:111896949 |
-
|
- | 0.0001 | - | |
| 28_GLU | GLY |
8.3kJPN chr11:111896977 |
rs782221985
|
- | 0.0001 | - | |
| 54_GLU | TER |
ClinVar chr11:111899269 |
rs781991355
|
Pathogenic | - | Pyruvate dehydrogenase E2 deficiency [MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348,Orphanet:765,Orphanet:79244] | |
| 58_GLU | LYS |
8.3kJPN chr11:111899281 |
-
|
- | 0.0001 | - | |
| 59_CYS | ARG |
8.3kJPN chr11:111899284 |
-
|
- | 0.0001 | - | |
| 70_THR | ALA |
8.3kJPN chr11:111899317 |
-
|
- | 0.0001 | - | |
| 74_PRO | THR |
8.3kJPN chr11:111899329 |
-
|
- | 0.0001 | - | |
| 78_ILE | MET |
gnomAD chr11:111899343 |
rs587627462
|
- | 0.00020279 | - |