PDB ID 1B3U     CHAIN A
Protein name PROTEIN (PROTEIN PHOSPHATASE PP2A)
Uniprot Accession P30153
The number of similar proteins 19
The number of binding states 8
The number of binding partners 7

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
1B3U (CHAIN: A)
1 Monomeric state
2 P67775  
3 Q9W9P1  
4 P67775   Q13362  
5 Q13033   Q13033  
6 P67775   Q9Y5P8  
7 P67775   P63151  
8 P67775   Q8BH58  

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Only interaction residues
#binding
partners
  5
  4
  3
  2
  1
  0

Sequence information

1   AAADGDDSLY   PIAVLIDELR   NEDVQLRLNS   IKKLSTIALA   LGVERTRSEL   50
51   LPFLTDTIYD   EDEVLLALAE   QLGTFTTLVG   GPEYVHCLLP   PLESLATVEE   100
101   TVVRDKAVES   LRAISHEHSP   SDLEAHFVPL   VKRLAGGDWF   TSRTSACGLF   150
151   SVCYPRVSSA   VKAELRQYFR   NLCSDDTPMV   RRAAASKLGE   FAKVLELDNV   200
201   KSEIIPMFSN   LASDEQDSVR   LLAVEACVNI   AQLLPQEDLE   ALVMPTLRQA   250
251   AEDKSWRVRY   MVADKFTELQ   KAVGPEITKT   DLVPAFQNLM   KDCEAEVRAA   300
301   ASHKVKEFCE   NLSADCRENV   IMSQILPCIK   ELVSDANQHV   KSALASVIMG   350
351   LSPILGKDNT   IEHLLPLFLA   QLKDECPEVR   LNIISNLDCV   NEVIGIRQLS   400
401   QSLLPAIVEL   AEDAKWRVRL   AIIEYMPLLA   GQLGVEFFDE   KLNSLCMAWL   450
451   VDHVYAIREA   ATSNLKKLVE   KFGKEWAHAT   IIPKVLAMSG   DPNYLHRMTT   500
501   LFCINVLSEV   CGQDITTKHM   LPTVLRMAGD   PVANVRFNVA   KSLQKIGPIL   550
551   DNSTLQSEVK   PILEKLTQDQ   DVDVKYFAQE   ALTVLSLA     600

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
2_GLY VAL 8.3kJPN
chr11:111637042
-
- 0.0001 -
3_GLY ARG 8.3kJPN
chr11:111637040
rs1555053169
- 0.0001 -
9_LEU VAL 8.3kJPN
chr19:52693377
rs1298006628
- 0.0001 -
25_GLN ARG 8.3kJPN
chr11:111636973
-
- 0.0001 -
31_ILE MET ClinVar
chr19:52705214
-
Likely pathogenic - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome [MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284]
58_ILE VAL gnomAD
chr11:111635624
rs372351210
- 0.000482245 -
65_LEU VAL 8.3kJPN
chr11:111635603
rs1555052522
- 0.0001 -
76_THR ALA 8.3kJPN
chr19:52709275
-
- 0.0001 -
77_GLY ASP ClinVar
chr11:111635566
rs1805076
Pathogenic - Lung carcinoma [MONDO:MONDO:0005138,MedGen:C0684249]
77_GLY ASP gnomAD
chr11:111635566
rs1805076
- 0.00651629 -
86_HIS TYR gnomAD
chr19:52709305
rs144146832
- 0.00193104 -
104_ARG CYS 8.3kJPN
chr11:111631733
rs782083920
- 0.0007 -
106_LYS ARG 8.3kJPN
chr19:52714562
-
- 0.0001 -
117_GLU ASP 8.3kJPN
chr11:111631692
-
- 0.0003 -
127_PHE LEU 8.3kJPN
chr19:52714624
-
- 0.0001 -
131_VAL LEU VAR_073718 -
LP/P - Intellectual developmental disorder, autosomal dominant 36 (MRD36) [MIM:616362]
134_LEU SER 8.3kJPN
chr11:111631642
-
- 0.0001 -
138_ASP GLU gnomAD
chr11:111631629
rs545584093
- 0.000107381 -
144_THR LYS gnomAD
chr11:111631612
rs115633648
- 0.000998314 -
144_THR LYS 8.3kJPN
chr11:111631612
rs115633648
- 0.0027 -
148_GLY VAL 8.3kJPN
chr11:111631600
-
- 0.0001 -
161_VAL MET gnomAD
chr19:52714726
rs146859239
- 0.000116821 -
163_ALA VAL 8.3kJPN
chr19:52714733
rs749322788
- 0.0001 -
173_CYS TRP ClinVar
chr19:52715957
rs2122334423
Likely pathogenic - Neurodevelopmental disorder [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926]
177_THR ALA ClinVar
chr19:52715967
-
Likely pathogenic - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome [MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284]
178_PRO LEU VAR_074488 rs786205228
LP/P - Intellectual developmental disorder, autosomal dominant 36 (MRD36) [MIM:616362]
178_PRO LEU ClinVar
chr19:52715971
rs786205228
Pathogenic - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome|not provided|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|PPP2R1A-related neurodevelopmental disorders|Inborn genetic diseases [MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284|MedGen:C3661900|MedGen:C0153574|MONDO:MONDO:0006485,MedGen:C0280630||MeSH:D030342,MedGen:C0950123]
178_PRO ARG ClinVar
chr19:52715971
rs786205228
Likely pathogenic - Uterine carcinosarcoma|Malignant neoplasm of body of uterus [MONDO:MONDO:0006485,MedGen:C0280630|MedGen:C0153574]
178_PRO HIS ClinVar
chr19:52715971
rs786205228
Likely pathogenic - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome [MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284]
179_MET THR ClinVar
chr19:52715974
rs1600167941
Pathogenic - PPP2R1A-related disorder|Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome|not provided [|MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284|MedGen:C3661900]
179_MET ARG ClinVar
chr19:52715974
rs1600167941
Likely pathogenic - See cases [-]
179_MET VAL ClinVar
chr19:52715973
rs2122334663
Pathogenic - not provided|Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome [MedGen:C3661900|MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284]
181_ARG TRP VAR_074489 rs786205227
LP/P - Intellectual developmental disorder, autosomal dominant 36 (MRD36) [MIM:616362]
181_ARG TRP ClinVar
chr19:52715979
rs786205227
Pathogenic/Likely pathogenic - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome|not provided|Inborn genetic diseases [MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
181_ARG TER 8.3kJPN
chr11:111630635
rs781991718
- 0.0001 -
182_ARG TRP ClinVar
chr19:52715982
rs1057519946
Pathogenic/Likely pathogenic - Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Breast neoplasm|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Neoplasm of the large intestine|Prostate adenocarcinoma|Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome|not provided [MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006485,MedGen:C0280630|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284|MedGen:C3661900]
182_ARG GLY ClinVar
chr19:52715982
rs1057519946
Likely pathogenic - Prostate adenocarcinoma|Breast neoplasm|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Gastric adenocarcinoma|Lung adenocarcinoma [MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013]
182_ARG PRO ClinVar
chr19:52715983
rs1057519947
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
218_SER LEU ClinVar
chr19:52716212
rs1555791268
Pathogenic/Likely pathogenic - Inborn genetic diseases|Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome|not provided|PPP2R1A-related condition [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284|MedGen:C3661900|]
219_VAL MET ClinVar
chr19:52716214
rs2122337413
Pathogenic - not provided [MedGen:C3661900]
219_VAL LEU 8.3kJPN
chr11:111626168
rs116572596
- - -
220_ARG CYS gnomAD
chr11:111626165
rs376765814
- 0.00011318 -
240_GLU ASP 8.3kJPN
chr11:111626103
-
- 0.0001 -
248_ARG CYS 8.3kJPN
chr19:52716301
-
- 0.0001 -
257_ARG HIS VAR_074490 rs863225094
LP/P - Intellectual developmental disorder, autosomal dominant 36 (MRD36) [MIM:616362]
257_ARG HIS ClinVar
chr19:52716329
rs863225094
Pathogenic/Likely pathogenic - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome|not provided|9 conditions|See cases [MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284|MedGen:C3661900|9 conditions|]
257_ARG CYS 8.3kJPN
chr11:111626054
rs1283934812
- 0.0003 -
281_ASP GLY 8.3kJPN
chr19:52719069
-
- 0.0003 -
291_LYS GLU gnomAD
chr11:111625752
rs562158440
- 0.000353925 -
294_GLU ASP 8.3kJPN
chr11:111625741
rs1347203213
- 0.0017 -
297_VAL LEU 8.3kJPN
chr19:52719116
-
- 0.0001 -
309_GLY ASP gnomAD
chr11:111625287
rs200276094
- 0.000112872 -
317_ARG GLY 8.3kJPN
chr11:111625264
rs782527776
- 0.0002 -
318_GLU TER 8.3kJPN
chr11:111625261
-
- 0.0001 -
341_LYS ARG gnomAD
chr11:111624270
rs115165302
- 0.00113841 -
341_LYS ARG 8.3kJPN
chr11:111624270
rs115165302
- 0.0002 -
361_ILE THR gnomAD
chr11:111624210
rs782060653
- 0.000135349 -
374_ASP GLU 8.3kJPN
chr19:52719913
-
- 0.0006 -
375_GLU ASP 8.3kJPN
chr11:111624167
-
- 0.0001 -
388_ASP GLY 8.3kJPN
chr11:111623019
-
- 0.0001 -
398_GLN HIS 8.3kJPN
chr11:111622988
rs1386768193
- 0.0001 -
427_PRO LEU 8.3kJPN
chr11:111622902
rs1555048136
- 0.0001 -
456_ALA THR gnomAD
chr11:111614249
rs144458207
- 0.000437593 -
477_ALA VAL 8.3kJPN
chr19:52724301
-
- 0.0001 -
490_GLY ARG 8.3kJPN
chr19:52724339
rs969720045
- 0.0002 -
497_ARG LEU ClinVar
chr19:52724361
-
Likely pathogenic - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome [MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284]
500_THR MET 8.3kJPN
chr19:52724370
-
- 0.0001 -
512_GLY ARG 8.3kJPN
chr19:52725370
rs770604606
- 0.0002 -
523_THR MET 8.3kJPN
chr19:52725404
rs747537922
- 0.0001 -
526_ARG CYS 8.3kJPN
chr19:52725412
rs770194852
- 0.0001 -
528_ALA THR 8.3kJPN
chr19:52725418
-
- 0.0001 -
536_ARG CYS gnomAD
chr11:111613299
rs566998075
- 0.000119403 -
557_SER ASN 8.3kJPN
chr19:52728981
rs1262874131
- 0.0001 -
573_ASP GLU 8.3kJPN
chr11:111612808
rs143440908
- 0.0007 -
574_VAL ILE 8.3kJPN
chr19:52729031
rs1158328586
- 0.0001 -
582_ILE VAL gnomAD
chr11:111612783
rs115287852
- 0.00102639 -
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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.