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 |
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 |
Only interaction residues |
|
||||||||||||||
|
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 | - |