| PDB ID | 2QXV
|
CHAIN | A |
|---|---|---|---|
| Protein name | Embryonic ectoderm development | ||
| Uniprot Accession | Q921E6 | ||
| The number of similar proteins | 64 | ||
| The number of binding states | 7 | ||
| The number of binding partners | 6 | ||
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
|
| 6 |
Q15022
Q15910
|
| 7 |
O75530
O75530
Q15910
Q15910
|
Downdload
Molecule viewer
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Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 170_ILE | THR |
8.3kJPN chr11:85967514 - |
- | 0.0002 | - | - | |
| 177_ILE | VAL |
gnomAD chr11:85967534 rs147440081 |
- | 0.000316428 | - | - | |
| 193_ASN | SER |
ClinVar chr11:85968585 rs1945710855 |
Pathogenic | - | - | Cohen-Gibson syndrome|not provided [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561|MedGen:C3661900] | |
| 231_VAL | ILE |
8.3kJPN chr11:85975273 rs759722952 |
- | 0.0001 | - | - | |
| 235_ARG | THR |
ClinVar chr11:85975286 rs1131692176 |
Pathogenic | - | - | Cohen-Gibson syndrome [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561] | |
| 255_MET | THR |
ClinVar chr11:85977165 - |
Likely pathogenic | - | - | Autism spectrum disorder [MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106] | |
| 257_HIS | TYR |
ClinVar chr11:85977170 rs1131692174 |
Pathogenic | - | - | Cohen-Gibson syndrome [MONDO:MONDO:0060510,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 [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561] | |
| 294_ARG | GLY |
ClinVar chr11:85979541 rs1131692175 |
Pathogenic | - | - | Cohen-Gibson syndrome [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561] | |
| 300_TYR | CYS |
ClinVar chr11:85979560 - |
Pathogenic | - | - | Cohen-Gibson syndrome [MONDO:MONDO:0060510,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 rs1565706229 |
Likely pathogenic | - | - | Cohen-Gibson syndrome [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561] | |
| 368_MET | LEU |
8.3kJPN chr11:85988960 - |
- | 0.0001 | - | - | |
| 370_ALA | VAL |
ClinVar chr11:85988967 rs1593776227 |
Likely pathogenic | - | - | Cohen-Gibson syndrome [MONDO:MONDO:0060510,MedGen:C4479654,OMIM:617561] | |
| 406_ARG | GLN |
ClinVar chr11:85989482 rs2138241608 |
Likely pathogenic | - | - | Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738] |