PDB ID | 1M63
|
CHAIN | A |
---|---|---|---|
Protein name | SERINE/THREONINE PROTEIN PHOSPHATASE 2B CATALYTIC SUBUNIT, ALPHA ISOFORM | ||
Uniprot Accession | Q08209 | ||
The number of similar proteins | 10 | ||
The number of binding states | 8 | ||
The number of binding partners | 5 |
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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Only interaction residues |
|
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|
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 |
-
|
Unclassified | - | 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 [MedGen:C4540199,OMIM:617711] | |
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 | - | |
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 | - | |
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 | - | |
242_GLU | GLY |
8.3kJPN chr4:102014990 |
-
|
- | 0.0001 | - | |
257_SER | PHE |
8.3kJPN chr8:22370933 |
-
|
- | 0.0001 | - | |
263_PRO | ARG |
8.3kJPN chr8:22380009 |
-
|
- | 0.0001 | - | |
281_HIS | GLN | VAR_080349 |
-
|
Unclassified | - | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
281_HIS | GLN |
ClinVar chr4:102004360 |
rs199706529
|
Pathogenic | - | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 [MedGen:C4540199,OMIM:617711] | |
282_GLU | LYS | VAR_080350 |
-
|
Unclassified | - | Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711] | |
282_GLU | LYS |
ClinVar chr4:102004359 |
rs1553923787
|
Likely pathogenic | - | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 [MedGen:C4540199,OMIM:617711]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
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 | - |