PDB ID 2P6B CHAIN C
Protein name Calmodulin-dependent calcineurin A 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
 Format:  
Molecule viewer
#binding
partners
  4
  3
  2
  1
  0
Sequence information
1   GSHMSEPKAI   DPKLSTTDRV   VKAVPFPPSH   RLTAKEVFDN   DGKPRVDILK   50
51   AHLMKEGRLE   ESVALRIITE   GASILRQEKN   LLDIDAPVTV   CGDIHGQFFD   100
101   LMKLFEVGGS   PANTRYLFLG   DYVDRGYFSI   ECVLYLWALK   ILYPKTLFLL   150
151   RGNHECRHLT   EYFTFKQECK   IKYSERVYDA   CMDAFDCLPL   AALMNQQFLC   200
201   VHGGLSPEIN   TLDDIRKLDR   FKEPPAYGPM   CDILWSDPLE   DFGNEKTQEH   250
251   FTHNTVRGCS   YFYSYPAVCE   FLQHNNLLSI   LRAHEAQDAG   YRMYRKSQTT   300
301   GFPSLITIFS   APNYLDVYNN   KAAVLKYENN   VMNIRQFNCS   PHPYWLPNFM   350
351   DVFTWSLPFV   GEKVTEMLVN   VLNICSDDEL   GSE     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]