Home News About DMDM Database Statistics Research Publications Contact  

 
  Domain Name: PhnL
ABC-type phosphonate transport system, ATPase component [Inorganic ion transport and metabolism]
No pairwise interactions found for the domain PhnL

Total Mutations Found: 70
Total Disease Mutations Found: 25
This domain occurred 36 times on human genes (77 proteins).



  CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
  CONE-ROD DYSTROPHY 3, INCLUDED
  FUNDUS FLAVIMACULATUS
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1, INCLUDED
  HIGH DENSITY LIPOPROTEIN DEFICIENCY
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
  JUNIOR BLOOD GROUP SYSTEM, JR(A-) PHENOTYPE
  JUNIOR BLOOD GROUP SYSTEM, JR(A-) PHENOTYPE, INCLUDED
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
  RETINAL DYSTROPHY, EARLY-ONSET SEVERE
  STARGARDT DISEASE 1
  STARGARDT DISEASE 1, INCLUDED;;
  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
  TANGIER DISEASE
  TAP1 DEFICIENCY, SOMATIC
  URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1


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 PhnL











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