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 | P01137 |
2 | P01137 P36897 P36897 P37173 |
3 | P01137 Q14392 P01137 P01137 |
4 | P01137 6GFF Q14392 P01137 P01137 |
Only interaction residues |
|
||||||||||
|
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 | VAR_081586 |
-
|
LP/P | - | Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213] | |
109_CYS | ARG |
ClinVar chr19:41836971 |
rs1336387628
|
Likely pathogenic | - | 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 | - |