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 |
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3 |
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4 |
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5 |
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6 |
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Only interaction residues |
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|
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 | - |