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

Coloring

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  

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   MSEPKAIDPK   LSTTDRVVKA   VPFPPSHRLT   AKEVFDNDGK   PRVDILKAHL   50
51   MKEGRLEESV   ALRIITEGAS   ILRQEKNLLD   IDAPVTVCGD   IHGQFFDLMK   100
101   LFEVGGSPAN   TRYLFLGDYV   DRGYFSIECV   LYLWALKILY   PKTLFLLRGN   150
151   HECRHLTEYF   TFKQECKIKY   SERVYDACMD   AFDCLPLAAL   MNQQFLCVHG   200
201   GLSPEINTLD   DIRKLDRFKE   PPAYGPMCDI   LWSDPLEDFG   NEKTQEHFTH   250
251   NTVRGCSYFY   SYPAVCEFLQ   HNNLLSILRA   HEAQDAGYRM   YRKSQTTGFP   300
301   SLITIFSAPN   YLDVYNNKAA   VLKYENNVMN   IRQFNCSPHP   YWLPNFMDVF   350
351   TWSLPFVGEK   VTEMLVNVLN   IC       400

Variants

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 -
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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.