| PDB ID | 1BQT
|
CHAIN | A |
|---|---|---|---|
| Protein name | INSULIN-LIKE GROWTH FACTOR-I | ||
| Uniprot Accession | P05019 | ||
| The number of similar proteins | 19 | ||
| The number of binding states | 6 | ||
| The number of binding partners | 5 | ||
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1BQT (CHAIN: A) | |
| 1 | Monomeric state |
| 2 |
P24593
|
| 3 |
P06213
|
| 4 |
P08069
|
| 5 |
Q09024
|
| 6 |
P08833
P22692
|
|
Only interaction residues |
|
||||||||||
|
|
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 19_GLY | GLU |
8.3kJPN chr12:102869441 - |
- | 0.0001 | 0.6917 | - | |
| 28_PRO | HIS |
8.3kJPN chr12:102813462 - |
- | 0.0001 | 0.6115 | - | |
| 47_CYS | TER |
ClinVar chr12:102813404 rs3730193 |
Likely pathogenic | - | - | Growth delay due to insulin-like growth factor type 1 deficiency [MONDO:MONDO:0012110,MedGen:C1837475,OMIM:608747,Orphanet:73272] | |
| 50_ARG | TRP |
VAR_075825
rs587779350 |
US | - | 0.3289 | - | |
| 63_PRO | THR |
8.3kJPN chr12:102813358 - |
- | 0.0001 | 0.2532 | - | |
| 67_ALA | THR |
VAR_056113
rs17884626 |
LB/B | - | 0.0681 | - | |
| 67_ALA | THR |
gnomAD chr12:102813346 rs17884626 |
- | 0.00111564 | 0.0681 | - | |
| 70_ALA | THR |
gnomAD chr12:102813337 rs151098426 |
- | 0.000677329 | 0.0858 | - |