| PDB ID | 3JUA
|
CHAIN | A |
|---|---|---|---|
| Protein name | Transcriptional enhancer factor TEF-3 | ||
| Uniprot Accession | Q62296 | ||
| The number of similar proteins | 30 | ||
| The number of binding states | 6 | ||
| The number of binding partners | 4 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 3JUA (CHAIN: A) | |
| 1 |
P46938
|
| 2 | Monomeric state |
| 3 |
Q62296
|
| 4 |
Q99NC0
|
| 5 |
Q80V24
|
| 6 |
Q15561
P46937
|
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 | |
|---|---|---|---|---|---|---|---|
| 210_ARG | CYS |
8.3kJPN chr11:12904598 rs375371397 |
- | 0.0001 | - | - | |
| 212_VAL | MET |
gnomAD chr12:3129871 rs367723028 |
- | 0.00027783 | - | - | |
| 213_ALA | VAL |
8.3kJPN chr12:3129875 - |
- | 0.0001 | - | - | |
| 218_ARG | HIS |
gnomAD chr11:12904623 rs188077520 |
- | 0.000218702 | - | - | |
| 218_ARG | HIS |
8.3kJPN chr11:12904623 rs188077520 |
- | 0.0124 | - | - | |
| 232_PRO | LEU |
gnomAD chr12:3129932 rs71583736 |
- | 0.010958 | - | - | |
| 232_PRO | LEU |
8.3kJPN chr12:3129932 rs71583736 |
- | 0.0003 | - | - | |
| 234_SER | LEU |
8.3kJPN chr11:12904671 rs140310944 |
- | 0.0001 | - | - | |
| 237_LYS | GLU |
8.3kJPN chr12:3131016 - |
- | 0.0001 | - | - | |
| 241_VAL | GLU |
8.3kJPN chr12:3131029 rs1415302307 |
- | 0.0001 | - | - | |
| 256_GLU | LYS |
8.3kJPN chr12:3131073 rs762656664 |
- | 0.0002 | - | - | |
| 260_ILE | VAL |
8.3kJPN chr12:3131085 rs761078905 |
- | 0.0001 | - | - | |
| 261_ARG | CYS |
gnomAD chr12:3131088 rs141718322 |
- | 0.0014752 | - | - | |
| 264_TYR | CYS |
8.3kJPN chr12:3131098 rs765302453 |
- | 0.0001 | - | - | |
| 272_GLY | SER |
8.3kJPN chr12:3131121 - |
- | 0.0001 | - | - | |
| 279_GLU | LYS |
8.3kJPN chr12:3131142 - |
- | 0.0001 | - | - | |
| 281_GLY | CYS |
8.3kJPN chr11:12923625 - |
- | 0.0001 | - | - | |
| 284_ASN | ASP |
8.3kJPN chr12:3131157 - |
- | 0.0001 | - | - | |
| 289_VAL | ILE |
8.3kJPN chr11:12923649 rs1243570522 |
- | 0.0001 | - | - | |
| 316_PRO | SER |
gnomAD chr12:3147203 rs11550887 |
- | 0.0377523 | - | - | |
| 316_PRO | SER |
8.3kJPN chr12:3147203 rs11550887 |
- | 0.0006 | - | - | |
| 317_GLU | LYS |
8.3kJPN chr12:3147206 rs987014448 |
- | 0.0001 | - | - | |
| 322_THR | ILE |
gnomAD chr12:3147222 rs200483208 |
- | 0.00041392 | - | - | |
| 323_CYS | SER |
gnomAD chr12:3147225 rs371946304 |
- | 0.000302507 | - | - | |
| 344_ARG | CYS |
gnomAD chr12:3149285 rs143259791 |
- | 0.000354153 | - | - | |
| 353_ARG | CYS |
gnomAD chr12:3149312 rs148295237 |
- | 0.000174978 | - | - | |
| 353_ARG | GLN |
8.3kJPN chr11:12951761 - |
- | 0.0001 | - | - | |
| 353_ARG | HIS |
8.3kJPN chr12:3149313 rs1172939530 |
- | 0.0002 | - | - | |
| 356_ARG | GLN |
8.3kJPN chr12:3149322 rs1326238086 |
- | 0.0001 | - | - | |
| 359_MET | VAL |
8.3kJPN chr11:12951778 rs764902614 |
- | 0.0001 | - | - | |
| 384_GLU | GLY |
8.3kJPN chr11:12951854 - |
- | 0.0001 | - | - | |
| 391_VAL | LEU |
8.3kJPN chr11:12958656 rs549211479 |
- | 0.0001 | - | - | |
| 398_GLN | ARG |
8.3kJPN chr12:3149553 rs1279803067 |
- | 0.0001 | - | - | |
| 412_ASN | SER |
8.3kJPN chr11:12958720 - |
- | 0.0001 | - | - | |
| 422_TYR | HIS |
ClinVar chr11:12958749 rs11567847 |
Pathogenic | - | - | Helicoid peripapillary chorioretinal degeneration [MONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985,Orphanet:86813] |