PDB ID 2QXV CHAIN A
Protein name Embryonic ectoderm development
Uniprot Accession Q921E6
The number of similar proteins 40
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
2QXV (CHAIN: A)
1 Q15910  
2 Monomeric state
3 Q15910  
4 5WP3  
5 Q15022   G1KPH4  
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partners
  4
  3
  2
  1
  0
Sequence information
1   SFKCVNSLKE   DHNQPLFGVQ   FNWHSKEGDP   LVFATVGSNR   VTLYECHSQG   50
51   EIRLLQSYVD   ADADENFYTC   AWTYDSNTSH   PLLAVAGSRG   IIRIINPITM   100
101   QCIKHYVGHG   NAINELKFHP   RDPNLLLSVS   KDHALRLWNI   QTDTLVAIFG   150
151   GVEGHRDEVL   SADYDLLGEK   IMSCGMDHSL   KLWRINSKRM   MNAIKESYDY   200
201   NPNKTNRPFI   SQKIHFPDFS   TRDIHRNYVD   CVRWLGDLIL   SKSCENAIVC   250
251   WKPGKMEDDI   DKIKPSESNV   TILGRFDYSQ   CDIWYMRFSM   DFWQKMLALG   300
301   NQVGKLYVWD   LEVEDPHKAK   CTTLTHHKCG   AAIRQTSFSR   DSSILIAVCD   350
351   DASIWRWDRL   R         400
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
235_ARG THR ClinVar
chr11:85975286
rs1131692176 Pathogenic Cohen-Gibson syndrome [MedGen:C4479654,OMIM:617561]
257_HIS TYR ClinVar
chr11:85977170
rs1131692174 Pathogenic Cohen-Gibson syndrome [MedGen:C4479654,OMIM:617561]
294_ARG SER ClinVar
chr11:85979543
rs1131692173 Pathogenic Cohen-Gibson syndrome [MedGen:C4479654,OMIM:617561]
294_ARG GLY ClinVar
chr11:85979541
rs1131692175 Pathogenic Cohen-Gibson syndrome [MedGen:C4479654,OMIM:617561]
358_MET THR ClinVar
chr11:85988152
- Likely pathogenic Cohen-Gibson syndrome [MedGen:C4479654,OMIM:617561]