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) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
3_ASP | HIS |
8.3kJPN chr19:41847807 - |
- | 0.0001 | 0.7645 | - | |
10_SER | PHE |
8.3kJPN chr19:41838184 - |
- | 0.0001 | 0.3595 | - | |
18_ARG | GLN |
gnomAD chr19:41838160 rs200164212 |
- | 0.00041832 | 0.2626 | - | |
18_ARG | GLN |
8.3kJPN chr19:41838160 rs200164212 |
- | 0.0001 | 0.2626 | - | |
21_TYR | TER |
ClinVar chr19:41838150 rs1057521741 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
29_GLY | SER |
8.3kJPN chr19:41838128 - |
- | 0.0001 | 0.4519 | - | |
59_SER | THR |
gnomAD chr19:41838037 rs199699574 |
- | 0.000608805 | 0.3173 | - | |
75_ALA | VAL |
8.3kJPN chr19:41837072 - |
- | 0.0002 | 0.2942 | - | |
107_ARG | GLY |
8.3kJPN chr19:41836977 rs981119783 |
- | 0.0001 | 0.4536 | - | |
109_CYS | ARG |
VAR_081586
- |
LP/P | - | 0.9992 | Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213] | |
109_CYS | ARG |
ClinVar chr19:41836971 rs1336387628 |
Likely pathogenic | - | 0.9992 | Encephalopathy [Human Phenotype Ontology:HP:0001298,MedGen:C0085584]; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome|Inflammatory bowel disease, immunodeficiency, and encephalopathy [MONDO:MONDO:0016542,MedGen:C4749850,Orphanet:238569|MONDO:MONDO:0032601,MedGen:C4748708,OMIM:618213,Orphanet:565788] | |
110_LYS | ASN |
8.3kJPN chr19:41836966 rs943475580 |
- | 0.0002 | 0.9676 | - |