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

Format:

Molecule viewer

#binding
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
Allele
Frequency
(4.7kJPN)
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]
637_THR ILE 4.7kJPN
chr3:41277946
-
- 0.0001 -
654_TYR TER ClinVar
chr3:41278086
rs750402920
Pathogenic - not provided [MedGen:CN517202]
661_ARG TER ClinVar
chr3:41278105
rs748294403
Pathogenic - not provided [MedGen:CN517202]
(Powered by wupsivus)

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.