PDB ID 1EGW     CHAIN A
Protein name MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A
Uniprot Accession Q02078
The number of similar proteins 32
The number of binding states 5
The number of binding partners 5

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1EGW (CHAIN: A)
1 Q02078  
2 Q02078   Q09472  
3 Q8CFN5   P34152  
4 Q02078   P52952  
5 Q02080   Q9Y6J0  

Downdload

Format:

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Only interaction residues
#binding
partners
  5
  4
  3
  2
  1
  0

Sequence information

1   GRKKIQITRI   MDERNRQVTF   TKRKFGLMKK   AYELSVLCDC   EIALIIFNSS   50
51   NKLFQYASTD   MDKVLLKYTE   YNEPHES       100

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
3_ARG SER ClinVar
chr5:88119597
rs876661308
Pathogenic - 1.0 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
6_ILE ASN ClinVar
chr5:88119589
rs2153222922
Likely pathogenic - 1.0 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
7_GLN TER ClinVar
chr5:88119587
-
Pathogenic - - MEF2C Haploinsufficiency Syndrome [-]
8_ILE LEU ClinVar
chr5:88119584
-
Likely pathogenic - 0.9973 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
10_ARG PRO 8.3kJPN
chr19:19261516
rs767519545
- 0.0001 0.9964 -
15_ARG CYS ClinVar
chr5:88119563
rs796052728
Pathogenic/Likely pathogenic - 0.9996 not provided|Autism spectrum disorder|Intellectual disability, autosomal dominant 20 [MedGen:C3661900|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106|MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
15_ARG PRO ClinVar
chr5:88119562
rs1202957297
Pathogenic - 0.9995 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
17_ARG GLN 8.3kJPN
chr1:156453035
-
- 0.0001 0.9904 -
20_THR SER ClinVar
chr5:88100615
rs1554139870
Likely pathogenic - 0.9985 Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
22_THR ARG ClinVar
chr5:88100608
rs1580990072
Likely pathogenic - 0.9913 Epileptic encephalopathy [Human Phenotype Ontology:HP:0200134,MedGen:C0543888]
23_LYS ARG ClinVar
chr5:88100605
rs797045053
Likely pathogenic - 0.9837 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
24_ARG LYS ClinVar
chr5:88100602
rs869312698
Pathogenic/Likely pathogenic - 0.9982 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
27_GLY ALA ClinVar
chr5:88100593
rs397514656
Pathogenic - 0.9994 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
27_GLY ARG ClinVar
chr5:88100594
-
Likely pathogenic - 1.0 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
29_MET ILE 8.3kJPN
chr15:100185798
-
- 0.0001 0.9998 -
30_LYS THR ClinVar
chr5:88100584
-
Likely pathogenic - 0.9998 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
33_TYR CYS 8.3kJPN
chr19:19260195
rs766585953
- 0.0001 0.9991 -
34_GLU TER ClinVar
chr5:88100573
rs1057520584
Pathogenic - - not provided [MedGen:CN517202]
35_LEU ARG ClinVar
chr5:88100569
rs2153074771
Likely pathogenic - 0.9999 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
35_LEU PRO ClinVar
chr5:88100569
rs2153074771
Pathogenic/Likely pathogenic - 1.0 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
36_SER GLY ClinVar
chr5:88100567
rs2153074738
Likely pathogenic - 0.9767 not provided [MedGen:C3661900]
36_SER ARG ClinVar
chr5:88100567
-
Likely pathogenic - 0.9999 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
38_LEU GLN ClinVar
chr5:88100560
rs397514655
Pathogenic - 1.0 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
38_LEU PRO ClinVar
chr5:88100560
rs397514655
Pathogenic - 1.0 Inborn genetic diseases|Intellectual disability, autosomal dominant 20 [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
45_LEU PRO ClinVar
chr5:88100539
-
Likely pathogenic - 1.0 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
57_TYR CYS ClinVar
chr5:88100503
rs2153074319
Likely pathogenic - 1.0 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
59_SER ARG ClinVar
chr5:88100496
rs1554139743
Likely pathogenic - 1.0 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
60_THR MET 8.3kJPN
chr19:19260114
rs757104393
- 0.0001 0.9878 -
65_VAL GLY ClinVar
chr5:88100479
rs1580988074
Likely pathogenic - 0.9973 Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
72_TYR TER ClinVar
chr5:88100457
-
Likely pathogenic - - Intellectual disability, autosomal dominant 20 [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384]
72_TYR HIS 8.3kJPN
chr19:19260079
rs1319025703
- 0.0001 0.9997 -
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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.