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