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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Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   ALCAICGDRA   TGKHYGASSC   DGCKGFFRRS   VRKNHMYSCR   FSRQCVVDKD   50
51   KRNQCRYCRL   KKCFRAGMKK   EAVQNERD       100

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
50_LEU PRO 8.3kJPN
chr20:43034758 		-
- 0.0001 -
55_GLY VAL ClinVar
chr20:43034773 		-
Likely pathogenic - Monogenic diabetes [MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
66_SER LEU 8.3kJPN
chr20:43034806 		rs1030452628
- 0.0001 -
73_GLY VAL ClinVar
chr20:43034827 		rs2146368271
Likely pathogenic - Maturity-onset diabetes of the young type 1 [MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552]
76_ARG TRP VAR_071951 rs587777732
LP/P - Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4) [MIM:616026]
76_ARG TRP ClinVar
chr20:43034835 		rs587777732
Pathogenic - Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young|Hyperinsulinemia|not provided|Maturity-onset diabetes of the young type 1 [MONDO:MONDO:0014458,MedGen:C4014962,OMIM:616026,Orphanet:93111|Human Phenotype Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|MedGen:C3661900|MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552]; Type 2 diabetes mellitus [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young|Maturity-onset diabetes of the young type 1 [MONDO:MONDO:0014458,MedGen:C4014962,OMIM:616026,Orphanet:93111|MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552]; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young|Maturity onset diabetes mellitus in young [MONDO:MONDO:0014458,MedGen:C4014962,OMIM:616026,Orphanet:93111|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
76_ARG GLN ClinVar
chr20:43034836 		rs1057517745
Likely pathogenic/Likely risk allele - not provided|Maturity onset diabetes mellitus in young [MedGen:CN517202|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
77_ARG CYS 8.3kJPN
chr8:76456180 		rs772036366
- 0.0001 -
78_SER ILE ClinVar
chr20:43034842 		-
Likely pathogenic - Maturity onset diabetes mellitus in young [Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
92_GLN HIS 8.3kJPN
chr8:76459834 		-
- 0.0001 -
102_GLN TER ClinVar
chr20:43036061 		rs1568724014
Pathogenic - Maturity-onset diabetes of the young type 1|Maturity onset diabetes mellitus in young [MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552]
106_CYS TYR ClinVar
chr20:43036074 		-
Likely pathogenic - Monogenic diabetes [MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
113_ARG GLN 8.3kJPN
chr20:43036095 		rs751274258
- 0.0001 -
115_GLY SER ClinVar
chr20:43036100 		-
Likely pathogenic - Monogenic diabetes [MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
121_VAL ILE ClinVar
chr20:43042336 		rs377476335
Pathogenic - not provided|Maturity-onset diabetes of the young type 1|Type 2 diabetes mellitus [MedGen:C3661900|MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552|Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young [MONDO:MONDO:0014458,MedGen:C4014962,OMIM:616026,Orphanet:93111]; Maturity-onset diabetes of the young type 1|Maturity onset diabetes mellitus in young|Monogenic diabetes [MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
122_GLN TER ClinVar
chr20:43042339 		rs2146411947
Pathogenic - not provided [MedGen:C3661900]
125_ARG GLN ClinVar
chr20:43042349 		rs1085307913
Pathogenic - not provided|Maturity-onset diabetes of the young type 1|Maturity onset diabetes mellitus in young|Monogenic diabetes [MedGen:C3661900|MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552|Human Phenotype Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625]
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.