Mutation Database
Mutations of HRG4

Recent update from: 03.04.2005
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Sequence

0 0
The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.




CRD Lys 57 ter A>T


  • Poor night vision
  • Defective colour vision
  • Defective light sensitivity at age 40
  • VA at age 57 20/40
  • Myopia
  • Macular atrophy
  • Pericentral ring scotoma
  • CRD ERG



(1)
Polymorphism 778c/t C/T 778 3' UTR



(1)

References

  1. Kobayashi,A., Higashide,T., Hamasaki,D., Kubota,S., Sakuma,H., An,W., Fujimaki,T., McLaren,M.J., Weleber,R.G., and Inana,G. HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 2000; Invest.Ophthalmol.Vis.Sci. 41: 3268-3277.
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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz