PDB ID 3CBB CHAIN B
Protein name Hepatocyte Nuclear Factor 4-alpha, DNA binding domain
Uniprot Accession P41235
The number of similar proteins 2
The number of binding states 1
The number of binding partners 1
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
3CBB (CHAIN: B)
1 P41235  
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partners
  1
  0
Sequence information
1   ALCAICGDRA   TGKHYGASSC   DGCKGFFRRS   VRKNHMYSCR   FSRQCVVDKD   50
51   KRNQCRYCRL   KKCFRAGMKK   EAVQNERD       100
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
76_ARG TRP ClinVar
chr20:43034835
rs587777732 Pathogenic Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young [MedGen:C4014962,OMIM:616026]; Hyperinsulinemia [Human Phenotype Ontology:HP:0000842,MedGen:C0020459]; Hyperinsulinism due to HNF4A deficiency [MedGen:C4274078,Orphanet:ORPHA263455]; not provided [MedGen:CN517202]
76_ARG GLN ClinVar
chr20:43034836
rs1057517745 Likely pathogenic not provided [MedGen:CN517202]
80_ARG GLN ClinVar
chr20:43034848
rs1555813319 Likely pathogenic Hyperinsulinism due to HNF4A deficiency [MedGen:C4274078,Orphanet:ORPHA263455]
125_ARG GLN ClinVar
chr20:43042349
rs1085307913 Likely pathogenic not provided [MedGen:CN517202]