| PDB ID | 2COO
|
CHAIN | A |
|---|---|---|---|
| Protein name | Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial | ||
| Uniprot Accession | P11182 | ||
| 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 |
|---|---|
| 2COO (CHAIN: A) | |
| 1 | Monomeric state |
Downdload
Molecule viewer
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Only interaction residues |
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Sequence information
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Variants
| Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
|---|---|---|---|---|---|---|---|
| 14_ARG | TER |
ClinVar chr1:100684232 |
-
|
Likely pathogenic | - | Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511] | |
| 14_ARG | GLN |
gnomAD chr1:100684231 |
rs34267966
|
- | 0.00104579 | - | |
| 39_SER | TER |
ClinVar chr1:100681730 |
rs121965003
|
Pathogenic | - | Maple syrup urine disease type 2 [MONDO:MONDO:0023693,MedGen:C1855371,OMIM:620699] | |
| 39_SER | TER |
ClinVar chr1:100681730 |
-
|
Pathogenic | - | Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511] | |
| 57_GLN | TER |
ClinVar chr1:100681677 |
rs1553230841
|
Pathogenic/Likely pathogenic | - | Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511] |