PDB ID 1EGW     CHAIN A
Protein name MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A
Uniprot Accession Q02078
The number of similar proteins 24
The number of binding states 4
The number of binding partners 4

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 Q02080   Q9Y6J0  

Downdload

Format:

Molecule viewer

#binding
partners
  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
(4.7kJPN)
Disease name
3_ARG SER ClinVar
chr5:88119597
rs876661308
Pathogenic - Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384]
15_ARG CYS ClinVar
chr5:88119563
rs796052728
Pathogenic - not provided [MedGen:CN517202]
17_ARG GLN 4.7kJPN
chr1:156453035
-
- 0.0001 -
20_THR SER ClinVar
chr5:88100615
rs1554139870
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
23_LYS ARG ClinVar
chr5:88100605
rs797045053
Likely pathogenic - Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384]
24_ARG LYS ClinVar
chr5:88100602
rs869312698
Pathogenic - Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384]
25_LYS ARG 4.7kJPN
chr1:156452413
-
- 0.0001 -
25_LYS GLN 4.7kJPN
chr1:156452414
-
- 0.0001 -
27_GLY ALA ClinVar
chr5:88100593
rs397514656
Pathogenic - Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384]
29_MET ILE 4.7kJPN
chr15:100185798
-
- 0.0001 -
34_GLU TER ClinVar
chr5:88100573
rs1057520584
Pathogenic - not provided [MedGen:CN517202]
38_LEU GLN ClinVar
chr5:88100560
rs397514655
Pathogenic - Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384]
38_LEU PRO ClinVar
chr5:88100560
rs397514655
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
42_GLU ASP 4.7kJPN
chr1:156452361
-
- 0.0001 -
45_LEU VAL 4.7kJPN
chr1:156452354
-
- 0.0001 -
47_ILE VAL 4.7kJPN
chr1:156452348
-
- 0.0001 -
48_PHE ILE 4.7kJPN
chr1:156452345
-
- 0.0001 -
49_ASN SER 4.7kJPN
chr1:156452341
rs1240913889
- 0.0001 -
50_HIS GLN 4.7kJPN
chr1:156452337
rs1216059423
- 0.0001 -
51_ALA THR 4.7kJPN
chr19:19260142
rs779592456
- 0.0001 -
64_ARG HIS 4.7kJPN
chr19:19260102
rs371035718
- 0.0001 -
64_ARG SER 4.7kJPN
chr19:19260103
-
- 0.0001 -
72_TYR HIS 4.7kJPN
chr19:19260079
rs1319025703
- 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.