| PDB ID | 2QXV
|
CHAIN | A |
|---|---|---|---|
| Protein name | Embryonic ectoderm development | ||
| Uniprot Accession | Q921E6 | ||
| The number of similar proteins | 40 | ||
| The number of binding states | 5 | ||
| The number of binding partners | 4 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 2QXV (CHAIN: A) | |
| 1 |
Q15910
|
| 2 | Monomeric state |
| 3 |
Q15910
|
| 4 |
5WP3
|
| 5 |
Q15022
G1KPH4
|
Downdload
Molecule viewer
|
Only interaction residues |
|
||||||||||||
|
Sequence information
|
Variants
| Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
|---|---|---|---|---|---|---|---|
| 170_ILE | THR |
8.3kJPN chr11:85967514 |
-
|
- | 0.0002 | - | |
| 177_ILE | VAL |
gnomAD chr11:85967534 |
rs147440081
|
- | 0.000316428 | - | |
| 231_VAL | ILE |
8.3kJPN chr11:85975273 |
rs759722952
|
- | 0.0001 | - | |
| 235_ARG | THR |
ClinVar chr11:85975286 |
rs1131692176
|
Pathogenic | - | Cohen-Gibson syndrome [MedGen:C4479654,OMIM:617561] | |
| 257_HIS | TYR |
ClinVar chr11:85977170 |
rs1131692174
|
Pathogenic | - | Cohen-Gibson syndrome [MedGen:C4479654,OMIM:617561] | |
| 273_ILE | VAL |
gnomAD chr11:85977218 |
rs367891435
|
- | 0.000172777 | - | |
| 278_ASP | ASN |
8.3kJPN chr11:85977233 |
rs1487912547
|
- | 0.0003 | - | |
| 294_ARG | SER |
ClinVar chr11:85979543 |
rs1131692173
|
Pathogenic | - | Cohen-Gibson syndrome [MedGen:C4479654,OMIM:617561] | |
| 294_ARG | GLY |
ClinVar chr11:85979541 |
rs1131692175
|
Pathogenic | - | Cohen-Gibson syndrome [MedGen:C4479654,OMIM:617561] | |
| 306_TRP | ARG |
8.3kJPN chr11:85979577 |
-
|
- | 0.0001 | - | |
| 349_ASP | GLU |
8.3kJPN chr11:85988126 |
-
|
- | 0.0001 | - | |
| 358_MET | THR |
ClinVar chr11:85988152 |
-
|
Likely pathogenic | - | Cohen-Gibson syndrome [MedGen:C4479654,OMIM:617561] | |
| 368_MET | LEU |
8.3kJPN chr11:85988960 |
-
|
- | 0.0001 | - |