PDB ID 1G3J     CHAIN A
Protein name BETA-CATENIN ARMADILLO REPEAT REGION
Uniprot Accession P35222
The number of similar proteins 35
The number of binding states 9
The number of binding partners 9

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 Q00987  
6 Q9NSA3  
7 O00482  
8 Q02248   P09803  
9 Q9NQB0   O00512  

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Format:

Molecule viewer


Only interaction residues
#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
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
185_ARG TER ClinVar
chr3:41266882
rs2078151590
Pathogenic - - not provided [MedGen:C3661900]
216_GLY ARG ClinVar
chr3:41266975
rs2125623075
Pathogenic - 0.999 Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
235_GLY ARG ClinVar
chr3:41267032
rs2125623412
Likely pathogenic - 0.9796 See cases [-]
241_VAL VAL ClinVar
chr3:41267052
rs483352717
Likely pathogenic - - not provided [MedGen:C3661900]
247_PRO ALA 8.3kJPN
chr3:41267155
-
- 0.0001 0.1956 -
263_LEU TER ClinVar
chr3:41267204
rs2078159952
Pathogenic - - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
266_GLN TER ClinVar
chr3:41267212
rs1553630472
Pathogenic - - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
270_LYS TER ClinVar
chr3:41267224
rs2125624259
Pathogenic - - not provided [MedGen:C3661900]
281_LYS TER ClinVar
chr3:41267257
rs1057520556
Pathogenic - - not provided [MedGen:CN517202]
287_ASN SER gnomAD
chr3:41267276
rs35288908
- 0.000565314 0.0536 -
309_GLN TER ClinVar
chr3:41267341
rs376393123
Pathogenic - - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
310_GLU TER ClinVar
chr3:41267344
rs2078162308
Pathogenic - - not provided [MedGen:CN517202]
327_ILE VAL 8.3kJPN
chr3:41268741
-
- 0.0001 0.6424 -
333_TYR TER ClinVar
chr3:41268761
rs778624338
Pathogenic - - not provided|Inborn genetic diseases|Hepatocellular carcinoma [MedGen:C3661900|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673]
333_TYR TER ClinVar
chr3:41268761
rs778624338
Pathogenic - - not provided|Severe intellectual disability-progressive spastic diplegia syndrome [MedGen:C3661900|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
338_TRP TER ClinVar
chr3:41268776
rs1454068577
Pathogenic - - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
341_SER CYS 8.3kJPN
chr3:41268783
-
- 0.0001 0.6505 -
345_LYS TER ClinVar
chr3:41268795
rs2125628072
Pathogenic - - not provided [MedGen:C3661900]
348_SER PHE ClinVar
chr3:41268805
-
Likely pathogenic - 0.9999 Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
364_GLN TER ClinVar
chr3:41274840
rs1559474040
Pathogenic - - not provided [MedGen:CN517202]
366_LEU TER ClinVar
chr3:41274847
-
Pathogenic - - CTNNB1-related condition [-]
380_ASN ILE ClinVar
chr3:41274889
rs1553631770
Likely pathogenic - 0.9959 Inborn genetic diseases|Exudative vitreoretinopathy 7 [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033123,MedGen:C4539767,OMIM:617572]
382_LEU PRO ClinVar
chr3:41274895
rs1064796240
Likely pathogenic - 0.9998 not provided [MedGen:CN517202]
388_LEU PRO VAR_072282
-
LP/P - 1.0 Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]
395_GLN TER ClinVar
chr3:41274933
-
Pathogenic - - Severe intellectual disability-progressive spastic diplegia syndrome|not provided [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473|MedGen:C3661900]
424_LEU ARG ClinVar
chr3:41275105
rs863224864
Likely pathogenic - 0.9993 Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
429_CYS TER ClinVar
chr3:41275121
rs2078362215
Likely pathogenic - - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
433_LYS TER ClinVar
chr3:41275131
rs1559474364
Pathogenic - - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
474_ARG TER ClinVar
chr3:41275254
rs1553631860
Pathogenic - - Severe intellectual disability-progressive spastic diplegia syndrome|not provided|Neurodevelopmental disorder|Intellectual disability|Microcephalic primordial dwarfism, Alazami type|Developmental disorder|7 conditions [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473|MedGen:C3661900|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0014031,MedGen:C3554439,OMIM:615071,Orphanet:319671|MedGen:C0008073|7 conditions]
482_GLN TER ClinVar
chr3:41275278
rs1559474557
Pathogenic - - not provided [MedGen:CN517202]
482_GLN GLU ClinVar
chr3:41275278
rs1559474557
Likely pathogenic - 0.759 Colorectal cancer [MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500]
496_LYS TER ClinVar
chr3:41275320
-
Pathogenic - - not provided [MedGen:C3661900]
515_ARG TER ClinVar
chr3:41275648
rs397514554
Pathogenic - - Severe intellectual disability-progressive spastic diplegia syndrome|not provided|7 conditions [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473|MedGen:C3661900|7 conditions]
527_LEU TER ClinVar
chr3:41275685
rs1057520730
Pathogenic - - not provided [MedGen:CN517202]
530_GLN TER ClinVar
chr3:41275693
rs1559474966
Pathogenic - - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
535_ARG TER ClinVar
chr3:41275708
rs886039332
Pathogenic - - not provided|Severe intellectual disability-progressive spastic diplegia syndrome|Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity|Exudative vitreoretinopathy 7|Intellectual disability [MedGen:C3661900|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473||MONDO:MONDO:0033123,MedGen:C4539767,OMIM:617572|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]
538_GLN TER ClinVar
chr3:41275717
-
Pathogenic - - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
550_ARG HIS 8.3kJPN
chr3:41275754
rs779588249
- 0.0001 0.3224 -
561_VAL VAL ClinVar
chr3:41275788
rs1553632001
Pathogenic - - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
564_VAL PHE 8.3kJPN
chr3:41277221
-
- 0.0001 0.9906 -
571_GLU LYS ClinVar
chr3:41277242
-
Likely pathogenic - 0.9989 not provided [MedGen:CN517202]
575_GLY ARG ClinVar
chr3:41277254
rs797044875
Pathogenic/Likely pathogenic - 0.9997 Inborn genetic diseases|not provided|Severe intellectual disability-progressive spastic diplegia syndrome [MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
587_ARG TER ClinVar
chr3:41277290
rs1064796453
Pathogenic/Likely pathogenic - - not provided|Inborn genetic diseases|Severe intellectual disability-progressive spastic diplegia syndrome [MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
623_GLN TER ClinVar
chr3:41277903
rs864309577
Pathogenic - - not provided [MedGen:CN517202]
625_LYS TER ClinVar
chr3:41277909
-
Pathogenic - - not provided [MedGen:C3661900]
626_GLU TER ClinVar
chr3:41277912
rs1553632357
Likely pathogenic - - Microcephaly [Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563]; Global developmental delay [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874]; Teratoma [Human Phenotype Ontology:HP:0009792,MONDO:MONDO:0002601,MedGen:C0039538]; Imperforate anus [Human Phenotype Ontology:HP:0001550,Human Phenotype Ontology:HP:0002023,MONDO:MONDO:0001046,MedGen:C0003466,OMIM:207500,OMIM:301800,Orphanet:557]; Absent speech [Human Phenotype Ontology:HP:0001344,Human Phenotype Ontology:HP:0001617,Human Phenotype Ontology:HP:0006798,MedGen:C1854882]
634_GLU TER ClinVar
chr3:41277936
rs1575334103
Pathogenic - - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
637_THR ILE 8.3kJPN
chr3:41277946
-
- 0.0001 0.9778 -
642_GLU TER ClinVar
chr3:41277960
rs2078436466
Pathogenic - - Severe intellectual disability-progressive spastic diplegia syndrome [MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
654_TYR TER ClinVar
chr3:41278086
rs750402920
Pathogenic - - not provided|Severe intellectual disability-progressive spastic diplegia syndrome [MedGen:CN517202|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473]
661_ARG TER ClinVar
chr3:41278105
rs748294403
Pathogenic/Likely pathogenic - - not provided|Severe intellectual disability-progressive spastic diplegia syndrome|CTNNB1-related disorders|Global developmental delay [MedGen:C3661900|MONDO:MONDO:0014035,MedGen:C3554449,OMIM:615075,Orphanet:404473||Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874]
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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.