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
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
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#binding
partners
  3
  2
  1
  0
Sequence information
1   ALDTNYCFSS   TEKNCCVRQL   YIDFRKDLGW   KWIHEPKGYH   ANFCLGPCPY   50
51   IWSLDTQYSK   VLALYNQHNP   GASAAPCCVP   QALEPLPIVY   YVGRKPKVEQ   100
101   LSNMIVRSCK   CS         150
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
21_TYR TER ClinVar
chr19:41838150
rs1057521741 Likely pathogenic not provided [MedGen:CN517202]
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]