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
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
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]
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]
27_GLY ALA ClinVar
chr5:88100593
rs397514656 Pathogenic Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384]
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]