| PDB ID | 4UM8
|
CHAIN | A |
|---|---|---|---|
| Protein name | INTEGRIN ALPHA-V | ||
| Uniprot Accession | P06756 | ||
| The number of similar proteins | 13 | ||
| The number of binding states | 4 | ||
| The number of binding partners | 5 | ||
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 4UM8 (CHAIN: A) | |
| 1 |
P18564
|
| 2 |
P06756
P26012
|
| 3 |
P18564
9CZA
9CZA
|
| 4 |
P18564
P01137
P01137
|
|
Only interaction residues |
|
||||||||||
|
|
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 14_PRO | ARG |
8.3kJPN chr2:187455196 rs748486456 |
- | 0.0002 | 0.1346 | - | |
| 26_PHE | LEU |
gnomAD chr2:187455233 rs201076250 |
- | 0.000193425 | 0.9138 | - | |
| 44_ASN | THR |
8.3kJPN chr2:187466783 - |
- | 0.0001 | 0.5411 | - | |
| 58_LYS | ARG |
8.3kJPN chr2:187466825 rs754337745 |
- | 0.0001 | 0.0812 | - | |
| 60_ASP | ALA |
8.3kJPN chr2:187466831 - |
- | 0.0001 | 0.1678 | - | |
| 64_THR | PRO |
gnomAD chr2:187466842 rs750649139 |
- | 0.00326009 | 0.048 | - | |
| 66_ARG | GLN |
gnomAD chr2:187466849 rs201909609 |
- | 0.000124443 | 0.0664 | - | |
| 66_ARG | TRP |
8.3kJPN chr2:187466848 rs200516634 |
- | 0.0001 | 0.136 | - | |
| 66_ARG | GLN |
8.3kJPN chr2:187466849 rs201909609 |
- | 0.0004 | 0.0664 | - | |
| 77_ASN | ASP |
8.3kJPN chr2:187487068 rs1168435795 |
- | 0.0001 | 0.0814 | - | |
| 79_ASP | GLU |
gnomAD chr2:187487076 rs200368244 |
- | 0.000123465 | 0.1683 | - | |
| 108_CYS | TYR |
8.3kJPN chr2:187490204 - |
- | 0.0001 | 0.9996 | - | |
| 113_HIS | ARG |
8.3kJPN chr2:187490219 rs1336656683 |
- | 0.0001 | 0.5841 | - | |
| 114_TRP | CYS |
ClinVar chr2:187490223 rs1357935457 |
Pathogenic | - | - | ITGAV deficiency|Immune dysregulation, neurodevelopmental defects, and colitis [|MONDO:MONDO:0980702,MedGen:CN380017,OMIM:621375] | |
| 192_VAL | ILE |
8.3kJPN chr2:187500841 rs200647242 |
- | 0.0004 | 0.0612 | - | |
| 211_ARG | GLN |
gnomAD chr2:187500899 rs376680231 |
- | 0.000108022 | 0.1084 | - | |
| 211_ARG | TRP |
8.3kJPN chr2:187500898 rs372449821 |
- | 0.0001 | 0.2997 | - | |
| 231_PHE | ILE |
8.3kJPN chr2:187501815 - |
- | 0.0001 | 0.7417 | - | |
| 232_ASN | SER |
gnomAD chr2:187501819 rs184114187 |
- | 0.000159086 | 0.0713 | - | |
| 250_LEU | SER |
8.3kJPN chr2:187503040 - |
- | 0.0001 | 0.537 | - | |
| 255_ILE | MET |
8.3kJPN chr2:187503144 - |
- | 0.0001 | 0.3268 | - | |
| 328_THR | MET |
8.3kJPN chr2:187506229 rs375790223 |
- | 0.0001 | 0.0788 | - | |
| 349_ASP | VAL |
ClinVar chr2:187506292 rs1443125036 |
Pathogenic | - | - | ITGAV deficiency|Immune dysregulation, neurodevelopmental defects, and colitis [|MONDO:MONDO:0980702,MedGen:CN380017,OMIM:621375] | |
| 359_ALA | VAL |
gnomAD chr2:187511419 rs145167954 |
- | 0.000178155 | 0.6616 | - | |
| 373_VAL | ILE |
gnomAD chr2:187511460 rs569411702 |
- | 0.000196765 | 0.0788 | - | |
| 375_ILE | VAL |
VAR_024289
rs3738918 |
LB/B | - | 0.137 | - | |
| 375_ILE | VAL |
gnomAD chr2:187511466 rs3738918 |
- | 0.0248177 | 0.137 | - | |
| 375_ILE | VAL |
8.3kJPN chr2:187511466 rs3738918 |
- | 0.0594 | 0.137 | - | |
| 408_MET | VAL |
8.3kJPN chr2:187511565 - |
- | 0.0004 | 0.1091 | - | |
| 414_ILE | THR |
8.3kJPN chr2:187511584 rs757308379 |
- | 0.0001 | 0.3841 | - | |
| 414_ILE | MET |
8.3kJPN chr2:187511585 - |
- | 0.0001 | 0.1929 | - | |
| 423_ILE | THR |
8.3kJPN chr2:187514573 - |
- | 0.0001 | 0.6515 | - | |
| 431_ARG | LEU |
gnomAD chr2:187514597 rs750343053 |
- | 0.000569832 | 0.3663 | - | |
| 441_ILE | THR |
8.3kJPN chr2:187516723 rs201241523 |
- | 0.0002 | 0.9287 | - | |
| 444_ASN | SER |
8.3kJPN chr2:187516732 rs755750941 |
- | 0.0002 | 0.0725 | - | |
| 452_SER | GLY |
8.3kJPN chr2:187516755 - |
- | 0.0004 | 0.0912 | - | |
| 453_ILE | ASN |
8.3kJPN chr2:187516759 - |
- | 0.0001 | 0.6816 | - | |
| 458_ASN | SER |
gnomAD chr2:187516774 rs200705825 |
- | 0.000115445 | 0.0829 | - | |
| 465_GLY | ALA |
gnomAD chr2:187516795 rs147403786 |
- | 0.000657533 | 0.1547 | - | |
| 465_GLY | TER |
8.3kJPN chr2:187516794 - |
- | 0.0001 | - | - | |
| 518_SER | ALA |
VAR_055970
rs2230615 |
LB/B | - | 0.1033 | - | |
| 518_SER | ALA |
gnomAD chr2:187521051 rs2230615 |
- | 0.000203823 | 0.1033 | - | |
| 520_SER | GLY |
8.3kJPN chr2:187521057 rs200088164 |
- | 0.0001 | 0.0841 | - | |
| 522_SER | PHE |
gnomAD chr2:187521064 rs146565475 |
- | 0.000100032 | 0.1442 | - | |
| 531_GLY | VAL |
8.3kJPN chr2:187521091 rs185792013 |
- | 0.0001 | 0.1843 | - | |
| 540_ALA | VAL |
gnomAD chr2:187521118 rs199670325 |
- | 0.000190019 | 0.3764 | - | |
| 548_PHE | LEU |
8.3kJPN chr2:187523779 - |
- | 0.0001 | 0.9969 | - | |
| 577_ILE | VAL |
8.3kJPN chr2:187523864 - |
- | 0.0001 | 0.1019 | - | |
| 582_THR | MET |
gnomAD chr2:187523880 rs150474737 |
- | 0.000137055 | 0.106 | - |