PDB ID 3JPW     CHAIN A
Protein name Glutamate [NMDA] receptor subunit epsilon-2
Uniprot Accession Q00960
The number of similar proteins 19
The number of binding states 5
The number of binding partners 4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
3JPW (CHAIN: A)
1 Monomeric state
2 Q00960  
3 Q91977  
4 Q00960   Q91977  
5 A0A1L8F5J9   7TE6   7TE6  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  2
  1
  0

Sequence information

1   PPSIGIAVIL   VGTSDEVAIK   DAHEKDDFHH   LSVVPRVELV   AMNETDPKSI   50
51   ITRICDLMSD   RKIQGVVFAD   DTDQEAIAQI   LDFISAQTLT   PILGIHGGSS   100
101   MIMADKDESS   MFFQFGPSIE   QQASVMLNIM   EEYDWYIFSI   VTTYFPGYQD   150
151   FVNKIRSTIE   NSFVGWELEE   VLLLDMSLDD   GDSKIQNQLK   KLQSPIILLY   200
201   CTKEEATYIF   EVANSVGLTG   YGYTWIVPSL   VAGDTDTVPS   EFPTGLISVS   250
251   YDEWDYGLPA   RVRDGIAIIT   TAASDMLSEH   SFIPEPKSSC   YNTHEKRIYQ   300
301   SNMLNRYLIN   VTFEGRDLSF   SEDGYQMHPK   LVIILLNKER   KWERVGKWKD   350
351   KSLQMKYYVW   PRM         400

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
32_PRO THR 8.3kJPN
chr12:14019049
rs1383833874
- 0.0001 - -
54_HIS ARG 8.3kJPN
chr12:14018982
-
- 0.0001 - -
168_ILE VAL 8.3kJPN
chr12:13906759
-
- 0.0001 - -
180_GLN TER ClinVar
chr12:13906723
rs1555133154
Pathogenic - - Intellectual disability, autosomal dominant 6 [MONDO:MONDO:0013509,MedGen:C3151411,OMIM:613970]
217_GLN TER ClinVar
chr12:13906612
rs1555133111
Pathogenic - - Intellectual disability, autosomal dominant 6 [MONDO:MONDO:0013509,MedGen:C3151411,OMIM:613970]
236_GLU TER ClinVar
chr12:13906555
rs1555133077
Pathogenic - - not provided|Complex neurodevelopmental disorder [MedGen:C3661900|MONDO:MONDO:0100038,MedGen:C5568766]
246_SER TER ClinVar
chr12:13906524
rs1863527228
Pathogenic - - Intellectual disability, autosomal dominant 6 [MONDO:MONDO:0013509,MedGen:C3151411,OMIM:613970]
253_GLY VAL 8.3kJPN
chr12:13906503
-
- 0.0001 - -
271_ALA VAL gnomAD
chr12:13906449
rs138098032
- 0.000163405 - -
341_ASN ILE ClinVar
chr12:13828782
rs1950069464
Likely pathogenic - - Intellectual disability [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]
360_PRO LEU ClinVar
chr12:13828725
-
Likely pathogenic - - Neurodevelopmental disorder [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926]
370_GLU TER ClinVar
chr12:13828696
-
Pathogenic - - Developmental disorder [MedGen:C0008073]
373_TRP TER ClinVar
chr12:13828685
rs1555119408
Pathogenic - - Intellectual disability, autosomal dominant 6 [MONDO:MONDO:0013509,MedGen:C3151411,OMIM:613970]
382_LYS ARG 8.3kJPN
chr12:13769572
rs1350444144
- 0.0007 - -
393_ARG TER ClinVar
chr12:13769540
rs1555112396
Pathogenic/Likely pathogenic - - Complex neurodevelopmental disorder|not provided|Autosomal dominant non-syndromic intellectual disability [MONDO:MONDO:0100038,MedGen:C5568766|MedGen:C3661900|MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469]
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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.