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
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
Downdload
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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
Disease name
92_HIS ARG ClinVar
chr4:102030220
rs1553925558 Pathogenic EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 [MedGen:C4540199,OMIM:617711]
92_HIS ARG VAR_080348 - 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]
281_HIS GLN VAR_080349 - 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]
282_GLU LYS VAR_080350 - Unclassified Epileptic encephalopathy, infantile or early childhood, 1 (IECEE1) [MIM:617711]