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 |
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2 | Monomeric state |
3 |
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4 |
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5 |
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6 |
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7 |
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8 |
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9 |
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10 |
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Only interaction residues |
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Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
5_LYS | THR |
8.3kJPN chr4:102267940 - |
- | 0.0001 | 0.0897 | - | |
9_PRO | THR |
8.3kJPN chr4:102267929 rs746412506 |
- | 0.0002 | 0.0547 | - | |
10_PRO | LEU |
8.3kJPN chr10:75255592 - |
- | 0.0001 | - | - | |
15_ASP | GLY |
8.3kJPN chr10:75255577 - |
- | 0.0001 | 0.2536 | - | |
28_ARG | LEU |
gnomAD chr10:75239251 rs149808527 |
- | 0.000103478 | 0.3808 | - | |
30_THR | ILE |
8.3kJPN chr4:102117243 - |
- | 0.0001 | 0.534 | - | |
30_THR | ALA |
8.3kJPN chr4:102117244 - |
- | 0.0001 | 0.1263 | - | |
31_ALA | SER |
gnomAD chr4:102117241 rs200056844 |
- | 0.000394535 | 0.0704 | - | |
44_ASP | GLU |
gnomAD chr8:22332537 rs530288872 |
- | 0.000194953 | 0.1919 | - | |
47_LYS | GLN |
gnomAD chr8:22332544 rs146307937 |
- | 0.000389919 | 0.5803 | - | |
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 | 0.0687 | - | |
61_ALA | VAL |
8.3kJPN chr10:75239152 rs1290520387 |
- | 0.0001 | 0.5442 | - | |
64_ILE | VAL |
8.3kJPN chr4:102117142 rs760289268 |
- | 0.0001 | 0.1591 | - | |
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 | - | 0.9975 | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
92_HIS | ARG |
ClinVar chr4:102030220 rs1553925558 |
Pathogenic | - | 0.9975 | 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 | 0.2984 | - | |
109_ALA | VAL |
8.3kJPN chr10:75238315 - |
- | 0.0001 | 0.325 | - | |
138_ILE | THR |
8.3kJPN chr8:22355542 - |
- | 0.0001 | 0.7181 | - | |
142_LYS | GLU |
8.3kJPN chr4:102020840 - |
- | 0.0001 | 0.22 | - | |
148_ARG | GLN |
8.3kJPN chr8:22355572 rs763951398 |
- | 0.0001 | 0.9963 | - | |
150_ASN | ILE |
VAR_081900
- |
LP/P | - | 0.9994 | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
151_HIS | ASP |
ClinVar chr4:102020813 - |
Pathogenic | - | 0.9999 | not provided [MedGen:CN517202] | |
167_ARG | GLN |
gnomAD chr8:22368602 rs61756434 |
- | 0.00171289 | - | - | |
171_SER | THR |
8.3kJPN chr8:22368613 - |
- | 0.0001 | 0.1323 | - | |
173_ARG | HIS |
gnomAD chr4:102019648 rs142836504 |
- | 0.000239436 | 0.0932 | - | |
173_ARG | CYS |
gnomAD chr4:102019649 rs777415869 |
- | 0.000240122 | 0.1454 | - | |
173_ARG | CYS |
8.3kJPN chr4:102019649 rs777415869 |
- | 0.0001 | 0.1454 | - | |
177_ALA | GLY |
ClinVar chr4:102019636 rs2110253722 |
Likely pathogenic | - | 0.3012 | 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 | 0.162 | - | |
223_ALA | THR |
gnomAD chr8:22370830 rs201570071 |
- | 0.000224201 | 0.7058 | - | |
224_TYR | CYS |
8.3kJPN chr4:102015044 - |
- | 0.0001 | 0.281 | - | |
234_ASP | GLU |
VAR_081901
- |
LP/P | - | 0.9991 | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
234_ASP | GLU |
ClinVar chr4:102015013 rs780035527 |
Pathogenic | - | 0.9991 | not provided [MedGen:C3661900] | |
242_GLU | GLY |
8.3kJPN chr4:102014990 - |
- | 0.0001 | 0.9576 | - | |
254_ARG | GLY |
ClinVar chr4:102014955 rs2110249810 |
Likely pathogenic | - | 0.9994 | not provided [MedGen:C3661900] | |
254_ARG | SER |
ClinVar chr4:102014953 rs1334933549 |
Pathogenic | - | 0.9999 | Epileptic encephalopathy, infantile or early childhood, 1 [MONDO:MONDO:0020630,MedGen:C4540199,OMIM:617711] | |
257_SER | PHE |
8.3kJPN chr8:22370933 - |
- | 0.0001 | 0.9999 | - | |
263_PRO | ARG |
8.3kJPN chr8:22380009 - |
- | 0.0001 | 0.6189 | - | |
281_HIS | GLN |
VAR_080349
rs199706529 |
LP/P | - | 0.9998 | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
281_HIS | GLN |
ClinVar chr4:102004360 rs199706529 |
Likely pathogenic | - | 0.9998 | Epileptic encephalopathy, infantile or early childhood, 1 [MONDO:MONDO:0020630,MedGen:C4540199,OMIM:617711] | |
282_GLU | LYS |
VAR_080350
rs1553923787 |
LP/P | - | 0.9994 | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
282_GLU | LYS |
ClinVar chr4:102004359 rs1553923787 |
Pathogenic/Likely pathogenic | - | 0.9994 | 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 | 0.9945 | - | |
297_THR | ILE |
8.3kJPN chr8:22380197 rs912550463 |
- | 0.0004 | 0.9927 | - | |
298_GLY | SER |
8.3kJPN chr8:22380199 - |
- | 0.0001 | 0.7612 | - | |
313_ASP | GLY |
8.3kJPN chr4:102001706 - |
- | 0.0001 | 0.9897 | - | |
326_ASN | HIS |
gnomAD chr10:75227416 rs574786999 |
- | 0.000373702 | 0.6619 | - | |
338_PRO | HIS |
8.3kJPN chr4:101984457 - |
- | 0.0001 | 0.9369 | - | |
341_TYR | CYS |
8.3kJPN chr8:22384971 rs369427673 |
- | 0.0001 | 0.9858 | - |