| PDB ID | 2E5A
|
CHAIN | A |
|---|---|---|---|
| Protein name | Lipoyltransferase 1 | ||
| Uniprot Accession | O46419 | ||
| The number of similar proteins | 2 | ||
| 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 |
|---|---|
| 2E5A (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 | |
|---|---|---|---|---|---|---|---|
| 11_ILE | VAL |
gnomAD chr2:99778529 |
rs151267116
|
- | 0.000147197 | - | |
| 11_ILE | VAL |
8.3kJPN chr2:99778529 |
rs151267116
|
- | 0.0001 | - | |
| 45_SER | PHE |
ClinVar chr2:99778632 |
rs767568897
|
Likely pathogenic | - | Lipoyl transferase 1 deficiency|not provided [MONDO:MONDO:0014576,MedGen:C4225379,OMIM:616299,Orphanet:401862|MedGen:CN517202] | |
| 66_GLU | LYS |
8.3kJPN chr2:99778694 |
-
|
- | 0.0001 | - | |
| 68_ILE | THR |
8.3kJPN chr2:99778701 |
rs754749935
|
- | 0.001 | - | |
| 72_ARG | GLY |
gnomAD chr2:99778712 |
rs137973334
|
- | 0.000116002 | - | |
| 82_HIS | ARG |
8.3kJPN chr2:99778743 |
rs1212695584
|
- | 0.0001 | - | |
| 125_ARG | LYS |
gnomAD chr2:99778872 |
rs150683925
|
- | 0.000187023 | - | |
| 128_LEU | ARG |
8.3kJPN chr2:99778881 |
-
|
- | 0.0001 | - | |
| 153_THR | ALA |
ClinVar chr2:99778955 |
rs786205156
|
Pathogenic | - | Lipoyl transferase 1 deficiency [MONDO:MONDO:0014576,MedGen:C4225379,OMIM:616299,Orphanet:401862] | |
| 161_THR | MET |
8.3kJPN chr2:99778980 |
rs143482964
|
- | 0.0198 | - | |
| 179_THR | ALA |
gnomAD chr2:99779033 |
rs116463717
|
- | 0.00245472 | - | |
| 187_LYS | GLU |
8.3kJPN chr2:99779057 |
-
|
- | 0.0001 | - | |
| 212_TYR | CYS |
8.3kJPN chr2:99779133 |
rs187886723
|
- | 0.0026 | - | |
| 242_THR | ILE |
8.3kJPN chr2:99779223 |
-
|
- | 0.0001 | - | |
| 243_TRP | TER |
ClinVar chr2:99779226 |
rs863224892
|
Likely pathogenic | - | Lipoyl transferase 1 deficiency [MONDO:MONDO:0014576,MedGen:C4225379,OMIM:616299,Orphanet:401862] | |
| 266_SER | TER |
ClinVar chr2:99779295 |
rs137891647
|
Pathogenic/Likely pathogenic | - | Lipoyl transferase 1 deficiency|not provided [MONDO:MONDO:0014576,MedGen:C4225379,OMIM:616299,Orphanet:401862|MedGen:C3661900] | |
| 297_ILE | VAL |
8.3kJPN chr2:99779387 |
rs745395682
|
- | 0.0001 | - | |
| 298_ARG | CYS |
8.3kJPN chr2:99779390 |
rs576171217
|
- | 0.0001 | - | |
| 308_SER | ILE |
8.3kJPN chr2:99779421 |
rs1387426126
|
- | 0.0003 | - | |
| 334_SER | ASN |
8.3kJPN chr2:99779499 |
-
|
- | 0.0001 | - |