PDB ID | 1KLA
|
CHAIN | A |
---|---|---|---|
Protein name | TRANSFORMING GROWTH FACTOR-BETA 1 | ||
Uniprot Accession | P01137 | ||
The number of similar proteins | 12 | ||
The number of binding states | 4 | ||
The number of binding partners | 6 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1KLA (CHAIN: A) | |
1 |
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2 |
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3 |
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4 |
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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
3_ASP | HIS |
8.3kJPN chr19:41847807 |
-
|
- | 0.0001 | - | |
10_SER | PHE |
8.3kJPN chr19:41838184 |
-
|
- | 0.0001 | - | |
18_ARG | GLN |
gnomAD chr19:41838160 |
rs200164212
|
- | 0.00041832 | - | |
18_ARG | GLN |
8.3kJPN chr19:41838160 |
rs200164212
|
- | 0.0001 | - | |
21_TYR | TER |
ClinVar chr19:41838150 |
rs1057521741
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
29_GLY | SER |
8.3kJPN chr19:41838128 |
-
|
- | 0.0001 | - | |
59_SER | THR |
gnomAD chr19:41838037 |
rs199699574
|
- | 0.000608805 | - | |
75_ALA | VAL |
8.3kJPN chr19:41837072 |
-
|
- | 0.0002 | - | |
107_ARG | GLY |
8.3kJPN chr19:41836977 |
rs981119783
|
- | 0.0001 | - | |
109_CYS | ARG |
ClinVar chr19:41836971 |
rs1336387628
|
Pathogenic | - | Encephalopathy [Human Phenotype Ontology:HP:0001298,MedGen:C1963101]; INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY [MedGen:CN257492,OMIM:618213]; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome [MedGen:CN744913,Orphanet:ORPHA238569] | |
110_LYS | ASN |
8.3kJPN chr19:41836966 |
rs943475580
|
- | 0.0002 | - |