PDB ID 1G3J CHAIN A
Protein name BETA-CATENIN ARMADILLO REPEAT REGION
Uniprot Accession P35222
The number of similar proteins 27
The number of binding states 8
The number of binding partners 8
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1G3J (CHAIN: A)
1 P70062  
2 Monomeric state
3 P25054  
4 Q9YGY0  
5 Q9NSA3  
6 O00482  
7 Q02248   P09803  
8 Q9NQB0   O00512  
Downdload
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partners
  6
  5
  4
  3
  2
  1
  0
Sequence information
1   KHAVVNLINY   QDDAELATRA   IPELTKLLND   EDQVVVNKAA   VMVHQLSKKE   50
51   ASRHAIMRSP   QMVSAIVRTM   QNTNDVETAR   CTAGTLHNLS   HHREGLLAIF   100
101   KSGGIPALVK   MLGSPVDSVL   FYAITTLHNL   LLHQEGAKMA   VRLAGGLQKM   150
151   VALLNKTNVK   FLAITTDCLQ   ILAYGNQESK   LIILASGGPQ   ALVNIMRTYT   200
201   YEKLLWTTSR   VLKVLSVCSS   NKPAIVEAGG   MQALGLHLTD   PSQRLVQNCL   250
251   WTLRNLSDAA   TKQEGMEGLL   GTLVQLLGSD   DINVVTCAAG   ILSNLTCNNY   300
301   KNKMMVCQVG   GIEALVRTVL   RAGDREDITE   PAICALRHLT   SRHQEAEMAQ   350
351   NAVRLHYGLP   VVVKLLHPPS   HWPLIKATVG   LIRNLALCPA   NHAPLREQGA   400
401   IPRLVQLLVR   AHQDTQRRTS   MGGTQQQFVE   GVRMEEIVEG   CTGALHILAR   450
451   DVHNRIVIRG   LNTIPLFVQL   LYSPIENIQR   VAAGVLCELA   QDKEAAEAIE   500
501   AEGATAPLTE   LLHSRNEGVA   TYAAAVLFRM   SE     550
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
266_GLN TER ClinVar
chr3:41267212
rs1553630472 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
281_LYS TER ClinVar
chr3:41267257
rs1057520556 Pathogenic not provided [MedGen:CN517202]
309_GLN TER ClinVar
chr3:41267341
rs376393123 Pathogenic Mental retardation, autosomal dominant 19 [MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473]
333_TYR TER ClinVar
chr3:41268761
rs778624338 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; not provided [MedGen:CN517202]
380_ASN ILE ClinVar
chr3:41274889
rs1553631770 Likely pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
382_LEU PRO ClinVar
chr3:41274895
rs1064796240 Likely pathogenic not provided [MedGen:CN517202]
388_LEU PRO VAR_072282 - Disease Mental retardation, autosomal dominant 19 (MRD19) [MIM:615075]
424_LEU ARG ClinVar
chr3:41275105
rs863224864 Likely pathogenic Mental retardation, autosomal dominant 19 [MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473]
433_LYS TER ClinVar
chr3:41275131
- Pathogenic Mental retardation, autosomal dominant 19 [MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473]
474_ARG TER ClinVar
chr3:41275254
rs1553631860 Pathogenic Mental retardation, autosomal dominant 19 [MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473]
482_GLN TER ClinVar
chr3:41275278
- Pathogenic not provided [MedGen:CN517202]
515_ARG TER ClinVar
chr3:41275648
rs397514554 Pathogenic Mental retardation, autosomal dominant 19 [MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473]; not provided [MedGen:CN517202]
527_LEU TER ClinVar
chr3:41275685
rs1057520730 Pathogenic not provided [MedGen:CN517202]
535_ARG TER ClinVar
chr3:41275708
rs886039332 Pathogenic Mental retardation, autosomal dominant 19 [MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473]; not provided [MedGen:CN517202]
575_GLY ARG ClinVar
chr3:41277254
rs797044875 Likely pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
587_ARG TER ClinVar
chr3:41277290
rs1064796453 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; not provided [MedGen:CN517202]
623_GLN TER ClinVar
chr3:41277903
rs864309577 Pathogenic not provided [MedGen:CN517202]
626_GLU TER ClinVar
chr3:41277912
rs1553632357 Likely pathogenic Absent speech [Human Phenotype Ontology:HP:0001344,MedGen:C1854882]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Imperforate anus [Human Phenotype Ontology:HP:0002023,MedGen:C0003466,OMIM:207500,OMIM:301800,SNOMED CT:204731006]; Microcephaly [Human Phenotype Ontology:HP:0000252,MedGen:C4551563]; Teratoma [Human Phenotype Ontology:HP:0009792,MedGen:C0039538,Orphanet:ORPHA883]
654_TYR TER ClinVar
chr3:41278086
rs750402920 Pathogenic not provided [MedGen:CN517202]
661_ARG TER ClinVar
chr3:41278105
rs748294403 Pathogenic not provided [MedGen:CN517202]