| PDB ID | 4C0O
|
CHAIN | A |
|---|---|---|---|
| Protein name | TRANSPORTIN-3 | ||
| Uniprot Accession | Q9Y5L0 | ||
| The number of similar proteins | 7 | ||
| The number of binding states | 6 | ||
| The number of binding partners | 5 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 4C0O (CHAIN: A) | |
| 1 |
Q07955
|
| 2 | Monomeric state |
| 3 |
Q16630
|
| 4 |
P62826
|
| 5 |
Q9Y5L0
Q14011
Q14011
|
| 6 |
Q9Y5L0
Q14011
Q14011
Q14011
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 36_GLU | ASP |
8.3kJPN chr7:128694717 - |
- | 0.0001 | 0.2014 | - | |
| 55_GLN | TER |
ClinVar chr7:128658169 rs1804050408 |
Pathogenic | - | - | Autosomal dominant limb-girdle muscular dystrophy type 1F [MONDO:MONDO:0012034,MedGen:C1842062,OMIM:608423,Orphanet:55595] | |
| 63_ALA | THR |
8.3kJPN chr7:128658145 rs1002528852 |
- | 0.0001 | 0.9941 | - | |
| 92_THR | ILE |
gnomAD chr7:128658057 rs61756250 |
- | 0.000377941 | 0.1423 | - | |
| 166_ARG | LEU |
8.3kJPN chr7:128655088 - |
- | 0.0001 | 0.9935 | - | |
| 203_ARG | HIS |
8.3kJPN chr7:128645158 rs977205285 |
- | 0.0002 | 0.2873 | - | |
| 270_PHE | SER |
8.3kJPN chr7:128641176 - |
- | 0.0001 | 0.7837 | - | |
| 286_ARG | HIS |
gnomAD chr7:128641128 rs140709222 |
- | 0.000131402 | 0.1121 | - | |
| 286_ARG | HIS |
8.3kJPN chr7:128641128 rs140709222 |
- | 0.0009 | 0.1121 | - | |
| 286_ARG | CYS |
8.3kJPN chr7:128641129 rs745576236 |
- | 0.0001 | 0.1812 | - | |
| 369_ILE | VAL |
8.3kJPN chr7:128637496 rs139019562 |
- | 0.0001 | 0.1277 | - | |
| 400_ARG | CYS |
8.3kJPN chr7:128633929 rs1210989492 |
- | 0.0001 | 0.9925 | - | |
| 442_PHE | LEU |
8.3kJPN chr7:128632087 - |
- | 0.0001 | 0.9991 | - | |
| 468_ARG | CYS |
8.3kJPN chr7:128630111 rs781140128 |
- | 0.0001 | 0.1015 | - | |
| 473_VAL | ILE |
8.3kJPN chr7:128630096 rs150330408 |
- | 0.0001 | 0.1179 | - | |
| 510_LEU | GLN |
8.3kJPN chr7:128626944 - |
- | 0.0001 | 0.9949 | - | |
| 519_ALA | VAL |
8.3kJPN chr7:128626917 - |
- | 0.0001 | 0.8816 | - | |
| 531_ARG | TER |
8.3kJPN chr7:128626882 - |
- | 0.0001 | - | - | |
| 552_LEU | VAL |
8.3kJPN chr7:128626819 - |
- | 0.0001 | 0.0623 | - | |
| 567_LEU | PRO |
8.3kJPN chr7:128624304 - |
- | 0.0001 | 0.9937 | - | |
| 638_ILE | VAL |
8.3kJPN chr7:128620033 - |
- | 0.0001 | 0.1699 | - | |
| 654_ALA | VAL |
8.3kJPN chr7:128619137 rs760634627 |
- | 0.0002 | 0.1219 | - | |
| 775_PRO | THR |
8.3kJPN chr7:128612587 - |
- | 0.0001 | 0.1523 | - | |
| 776_ILE | VAL |
8.3kJPN chr7:128612584 rs368873021 |
- | 0.0001 | 0.0778 | - | |
| 781_ILE | VAL |
8.3kJPN chr7:128612569 - |
- | 0.0001 | 0.0681 | - | |
| 818_ARG | PRO |
VAR_071822
rs587777431 |
LP/P | - | 0.9914 | Muscular dystrophy, limb-girdle, autosomal dominant 2 (LGMDD2) [MIM:608423] | |
| 818_ARG | PRO |
ClinVar chr7:128610347 rs587777431 |
Pathogenic | - | 0.9914 | Autosomal dominant limb-girdle muscular dystrophy type 1F [MONDO:MONDO:0012034,MedGen:C1842062,OMIM:608423,Orphanet:55595] | |
| 847_PRO | HIS |
8.3kJPN chr7:128610260 rs1193471279 |
- | 0.0001 | 0.5371 | - | |
| 866_PRO | LEU |
8.3kJPN chr7:128610203 rs199600419 |
- | 0.0001 | 0.2521 | - | |
| 897_ASP | GLY |
8.3kJPN chr7:128607355 - |
- | 0.0001 | 0.779 | - | |
| 914_ALA | VAL |
gnomAD chr7:128597340 rs61756249 |
- | 0.000652404 | 0.4234 | - | |
| 916_ARG | GLN |
8.3kJPN chr7:128597334 - |
- | 0.0001 | 0.7975 | - |