PDB ID | 1M63 | CHAIN | A |
---|---|---|---|
Protein name | SERINE/THREONINE PROTEIN PHOSPHATASE 2B CATALYTIC SUBUNIT, ALPHA ISOFORM | ||
Uniprot Accession | Q08209 | ||
The number of similar proteins | 15 | ||
The number of binding states | 10 | ||
The number of binding partners | 7 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1M63 (CHAIN: A) | |
1 | P63098 P63098 P62937 P62937 |
2 | Monomeric state |
3 | P63098 |
4 | P53805 |
5 | Q08209 P63098 |
6 | P19634 P63098 |
7 | P63098 O36972 |
8 | P63099 P62942 |
9 | P63098 P62937 |
10 | P63098 P62937 P62937 |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
5_LYS | THR |
8.3kJPN chr4:102267940 |
-
|
- | 0.0001 | - | |
9_PRO | THR |
8.3kJPN chr4:102267929 |
rs746412506
|
- | 0.0002 | - | |
10_PRO | LEU |
8.3kJPN chr10:75255592 |
-
|
- | 0.0001 | - | |
15_ASP | GLY |
8.3kJPN chr10:75255577 |
-
|
- | 0.0001 | - | |
28_ARG | LEU |
gnomAD chr10:75239251 |
rs149808527
|
- | 0.000103478 | - | |
30_THR | ILE |
8.3kJPN chr4:102117243 |
-
|
- | 0.0001 | - | |
30_THR | ALA |
8.3kJPN chr4:102117244 |
-
|
- | 0.0001 | - | |
31_ALA | SER |
gnomAD chr4:102117241 |
rs200056844
|
- | 0.000394535 | - | |
44_ASP | GLU |
gnomAD chr8:22332537 |
rs530288872
|
- | 0.000194953 | - | |
47_LYS | GLN |
gnomAD chr8:22332544 |
rs146307937
|
- | 0.000389919 | - | |
51_VAL | MET |
8.3kJPN chr10:75239183 |
-
|
- | 0.0001 | - | |
55_ARG | TER |
8.3kJPN chr8:22332568 |
rs771899958
|
- | 0.0001 | - | |
56_LEU | VAL |
gnomAD chr8:22332571 |
rs560532505
|
- | 0.000167088 | - | |
61_ALA | VAL |
8.3kJPN chr10:75239152 |
rs1290520387
|
- | 0.0001 | - | |
64_ILE | VAL |
8.3kJPN chr4:102117142 |
rs760289268
|
- | 0.0001 | - | |
66_ASN | SER |
8.3kJPN chr8:22332602 |
-
|
- | 0.0001 | - | |
66_ASN | SER |
8.3kJPN chr10:75239137 |
rs772163544
|
- | 0.0001 | - | |
74_GLN | TER |
8.3kJPN chr8:22332625 |
-
|
- | 0.0001 | - | |
78_MET | VAL |
8.3kJPN chr10:75239102 |
rs1194657674
|
- | 0.0001 | - | |
92_HIS | ARG | VAR_080348 |
rs1553925558
|
LP/P | - | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
92_HIS | ARG |
ClinVar chr4:102030220 |
rs1553925558
|
Pathogenic | - | Epileptic encephalopathy, infantile or early childhood, 1|Intellectual disability [MONDO:MONDO:0020630,MedGen:C4540199,OMIM:617711|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]; Seizure|Inborn genetic diseases [Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572|MeSH:D030342,MedGen:C0950123] | |
104_VAL | ILE |
8.3kJPN chr4:102030185 |
-
|
- | 0.0001 | - | |
109_ALA | VAL |
8.3kJPN chr10:75238315 |
-
|
- | 0.0001 | - | |
138_ILE | THR |
8.3kJPN chr8:22355542 |
-
|
- | 0.0001 | - | |
142_LYS | GLU |
8.3kJPN chr4:102020840 |
-
|
- | 0.0001 | - | |
148_ARG | GLN |
8.3kJPN chr8:22355572 |
rs763951398
|
- | 0.0001 | - | |
150_ASN | ILE | VAR_081900 |
-
|
LP/P | - | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
151_HIS | ASP |
ClinVar chr4:102020813 |
-
|
Pathogenic | - | not provided [MedGen:CN517202] | |
167_ARG | GLN |
gnomAD chr8:22368602 |
rs61756434
|
- | 0.00171289 | - | |
171_SER | THR |
8.3kJPN chr8:22368613 |
-
|
- | 0.0001 | - | |
173_ARG | HIS |
gnomAD chr4:102019648 |
rs142836504
|
- | 0.000239436 | - | |
173_ARG | CYS |
gnomAD chr4:102019649 |
rs777415869
|
- | 0.000240122 | - | |
173_ARG | CYS |
8.3kJPN chr4:102019649 |
rs777415869
|
- | 0.0001 | - | |
177_ALA | GLY |
ClinVar chr4:102019636 |
rs2110253722
|
Likely pathogenic | - | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development [MONDO:MONDO:0032642,MedGen:C4748872,OMIM:618265,Orphanet:565858]; Epileptic encephalopathy, infantile or early childhood, 1 [MONDO:MONDO:0020630,MedGen:C4540199,OMIM:617711] | |
207_THR | SER |
8.3kJPN chr8:22368722 |
-
|
- | 0.0001 | - | |
209_LEU | ILE |
8.3kJPN chr8:22368727 |
-
|
- | 0.0001 | - | |
223_ALA | THR |
gnomAD chr8:22370830 |
rs201570071
|
- | 0.000224201 | - | |
224_TYR | CYS |
8.3kJPN chr4:102015044 |
-
|
- | 0.0001 | - | |
234_ASP | GLU | VAR_081901 |
-
|
LP/P | - | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
234_ASP | GLU |
ClinVar chr4:102015013 |
rs780035527
|
Pathogenic | - | not provided [MedGen:C3661900] | |
242_GLU | GLY |
8.3kJPN chr4:102014990 |
-
|
- | 0.0001 | - | |
254_ARG | GLY |
ClinVar chr4:102014955 |
rs2110249810
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
254_ARG | SER |
ClinVar chr4:102014953 |
rs1334933549
|
Pathogenic | - | Epileptic encephalopathy, infantile or early childhood, 1 [MONDO:MONDO:0020630,MedGen:C4540199,OMIM:617711] | |
257_SER | PHE |
8.3kJPN chr8:22370933 |
-
|
- | 0.0001 | - | |
263_PRO | ARG |
8.3kJPN chr8:22380009 |
-
|
- | 0.0001 | - | |
281_HIS | GLN | VAR_080349 |
rs199706529
|
LP/P | - | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
281_HIS | GLN |
ClinVar chr4:102004360 |
rs199706529
|
Likely pathogenic | - | Epileptic encephalopathy, infantile or early childhood, 1 [MONDO:MONDO:0020630,MedGen:C4540199,OMIM:617711] | |
282_GLU | LYS | VAR_080350 |
rs1553923787
|
LP/P | - | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
282_GLU | LYS |
ClinVar chr4:102004359 |
rs1553923787
|
Pathogenic/Likely pathogenic | - | Inborn genetic diseases|Epileptic encephalopathy, infantile or early childhood, 1|Epileptic encephalopathy|Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020630,MedGen:C4540199,OMIM:617711|Human Phenotype Ontology:HP:0200134,MedGen:C0543888|MONDO:MONDO:0032642,MedGen:C4748872,OMIM:618265,Orphanet:565858]; Epileptic encephalopathy, infantile or early childhood, 1|not provided [MONDO:MONDO:0020630,MedGen:C4540199,OMIM:617711|MedGen:C3661900] | |
292_ARG | SER |
8.3kJPN chr8:22380183 |
-
|
- | 0.0001 | - | |
297_THR | ILE |
8.3kJPN chr8:22380197 |
rs912550463
|
- | 0.0004 | - | |
298_GLY | SER |
8.3kJPN chr8:22380199 |
-
|
- | 0.0001 | - | |
313_ASP | GLY |
8.3kJPN chr4:102001706 |
-
|
- | 0.0001 | - | |
326_ASN | HIS |
gnomAD chr10:75227416 |
rs574786999
|
- | 0.000373702 | - | |
338_PRO | HIS |
8.3kJPN chr4:101984457 |
-
|
- | 0.0001 | - | |
341_TYR | CYS |
8.3kJPN chr8:22384971 |
rs369427673
|
- | 0.0001 | - |