Home News About DMDM Database Statistics Research Publications Contact  

 
Click for a Larger Image
  Domain Name: PAX
Paired Box domain.
No pairwise interactions found for the domain PAX

Total Mutations Found: 189
Total Disease Mutations Found: 54
This domain occurred 9 times on human genes (48 proteins).



  ANIRIDIA
  ANIRIDIA (AN)
  ANIRIDIA, ATYPICAL
  ANIRIDIA, INCLUDED
  COLOBOMA OF IRIS CHOROID AND RETINA (COI)
  CRANIOFACIAL-DEAFNESS-HAND SYNDROME
  FOVEAL HYPOPLASIA (FOVHYP)
  FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
  FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES, INCLUDED
  FOVEAL HYPOPLASIA, INCLUDED;;
  FOVEAL HYPOPLASIA, ISOLATED
  HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
  MORNING GLORY DISC ANOMALY
  OTOFACIOCERVICAL SYNDROME 2 (1 FAMILY)
  PAPILLORENAL SYNDROME
  PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
  PETERS ANOMALY
  TOOTH AGENESIS, SELECTIVE, 3
  WAARDENBURG SYNDROME, TYPE 1
  WAARDENBURG SYNDROME, TYPE 1, INCLUDED
  WAARDENBURG SYNDROME, TYPE 3


Tips:
 If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.

 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for PAX








Weblogos are Copyright (c) 2002 Regents of the University of California




Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258