PDB ID 2P6B     CHAIN C
Protein name Calmodulin-dependent calcineurin A 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
2P6B (CHAIN: C)
1 Q08209   P63098  
2 Monomeric state
3 P63098  
4 P53805  
5 P63098   P19634  
6 P63098   O36972  
7 P63099   P62942  
8 P63098   P62937  
9 P63098   P62937   P62937  
10 P63098   P63098   P62937   P62937  

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Only interaction residues
#binding
partners
  5
  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
 Allele
Frequency
(> 0.0001)		 Disease name
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.