PDB ID 2Z6H CHAIN A
Protein name Catenin beta-1
Uniprot Accession P35222
The number of similar proteins 26
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
2Z6H (CHAIN: A)
1 Monomeric state
2 P27782  
3 Q9NSA3  
4 P25054  
5 Q9YGY0  
6 O00482  
7 Q9NQB0   O00512  
8 Q02248   P09803  
Downdload
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partners
  6
  5
  4
  3
  2
  1
  0
Sequence information
1   NLINYQDDAE   LATRAIPELT   KLLNDEDQVV   VNKAAVMVHQ   LSKKEASRHA   50
51   IMRSPQMVSA   IVRTMQNTND   VETARCTAGT   LHNLSHHREG   LLAIFKSGGI   100
101   PALVKMLGSP   VDSVLFYAIT   TLHNLLLHQE   GAKMAVRLAG   GLQKMVALLN   150
151   KTNVKFLAIT   TDCLQILAYG   NQESKLIILA   SGGPQALVNI   MRTYTYEKLL   200
201   WTTSRVLKVL   SVCSSNKPAI   VEAGGMQALG   LHLTDPSQRL   VQNCLWTLRN   250
251   LSDAATKQEG   MEGLLGTLVQ   LLGSDDINVV   TCAAGILSNL   TCNNYKNKMM   300
301   VCQVGGIEAL   VRTVLRAGDR   EDITEPAICA   LRHLTSRHQE   AEMAQNAVRL   350
351   HYGLPVVVKL   LHPPSHWPLI   KATVGLIRNL   ALCPANHAPL   REQGAIPRLV   400
401   QLLVRAHQDT   QRRTSMGGTQ   QQFVEGVRME   EIVEGCTGAL   HILARDVHNR   450
451   IVIRGLNTIP   LFVQLLYSPI   ENIQRVAAGV   LCELAQDKEA   AEAIEAEGAT   500
501   APLTELLHSR   NEGVATYAAA   VLFRMSEDKP   QDYKKRLSVE   LTSSLFRTEP   550
551   MAWNETADLG   LDIGAQGEPL   GYRQDDPSYR   SFHSGGYGQD   ALGMDPMMEH   600
601   EMGGHHPGAD   YPVDGLPDLG   HAQDLMDGLP   PGDSNQLAWF   DTDL   650
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]
688_MET VAL VAR_018954 rs4135384 Polymorphism -
690_TRP TER ClinVar
chr3:41278193
rs1553632412 Pathogenic not provided [MedGen:CN517202]