| PDB ID | 3GB8
|
CHAIN | A |
|---|---|---|---|
| Protein name | Exportin-1 | ||
| Uniprot Accession | O14980 | ||
| The number of similar proteins | 12 | ||
| The number of binding states | 6 | ||
| The number of binding partners | 4 | ||
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 3GB8 (CHAIN: A) | |
| 1 |
O95149
|
| 2 | Monomeric state |
| 3 |
P62826
|
| 4 |
O95149
P62826
|
| 5 |
Q6P5F9
O95149
P62826
|
| 6 |
P0AEX9
O95149
P62826
|
|
Only interaction residues |
|
||||||||
|
|
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 105_TYR | TER |
ClinVar chr2:61729432 - |
Pathogenic | - | - | XPO1-associated Neurodevelopmental Disorder [-] | |
| 200_ASN | SER |
8.3kJPN chr2:61726040 rs1051821670 |
- | 0.0001 | 0.0543 | - | |
| 203_SER | LEU |
8.3kJPN chr2:61726031 - |
- | 0.0001 | 0.4014 | - | |
| 271_ILE | VAL |
8.3kJPN chr2:61724091 - |
- | 0.0001 | 0.1584 | - | |
| 448_THR | LYS |
ClinVar chr2:61720091 - |
Pathogenic | - | - | XPO1-associated Neurodevelopmental Disorder [-] | |
| 454_TYR | CYS |
ClinVar chr2:61720073 - |
Pathogenic | - | - | XPO1-associated Neurodevelopmental Disorder [-] | |
| 525_LEU | PHE |
ClinVar chr2:61719608 - |
Pathogenic | - | - | XPO1-associated Neurodevelopmental Disorder [-] | |
| 539_ILE | VAL |
8.3kJPN chr2:61719568 rs758975202 |
- | 0.0001 | 0.1584 | - | |
| 568_LYS | ASN |
ClinVar chr2:61719479 - |
Pathogenic | - | - | XPO1-associated Neurodevelopmental Disorder [-] | |
| 650_GLN | PRO |
ClinVar chr2:61717850 - |
Pathogenic | - | - | XPO1-associated Neurodevelopmental Disorder [-] | |
| 653_LEU | VAL |
8.3kJPN chr2:61717842 - |
- | 0.0001 | 0.4194 | - | |
| 659_LEU | SER |
8.3kJPN chr2:61717823 - |
- | 0.0001 | 0.1465 | - | |
| 716_ASP | TYR |
ClinVar chr2:61715783 - |
Pathogenic | - | - | XPO1-associated Neurodevelopmental Disorder [-] | |
| 717_MET | ARG |
ClinVar chr2:61715779 - |
Pathogenic | - | - | XPO1-associated Neurodevelopmental Disorder [-] | |
| 765_ARG | TER |
ClinVar chr2:61715320 - |
Pathogenic | - | - | XPO1-associated Neurodevelopmental Disorder [-] | |
| 767_ASN | SER |
gnomAD chr2:61715313 rs146348437 |
- | 0.000135302 | 0.0532 | - | |
| 767_ASN | SER |
8.3kJPN chr2:61715313 rs146348437 |
- | 0.0001 | 0.0532 | - | |
| 856_ASN | SER |
8.3kJPN chr2:61711182 rs768499033 |
- | 0.0001 | 0.1162 | - | |
| 913_SER | ILE |
ClinVar chr2:61710166 - |
Pathogenic | - | - | XPO1-associated Neurodevelopmental Disorder [-] | |
| 915_TYR | HIS |
8.3kJPN chr2:61710161 rs764886204 |
- | 0.0001 | 0.5593 | - |