Scientific Newsletter Logo Retina International's

Scientific Newsletter


Mutation Database
Mutations of the Lecithin Retinol Acyltransferase Gene (LRAT)

Recent update from: 13.11.2002


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Sequence




The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the published transcription start site since LRAT contains an untranslated first exon.


Early-onset severe retinal dystrophy 396delAA CAG AAA AAG-CAG __A AAG 443 2
Heterozygous
604863-0002 (2)
Early-onset severe retinal dystrophy Ser 175 Arg AGT-AGA 561 2 +PshAI
  • No common ancestor in the two families
  • No acyltransferase activity in COS-7 cells

  • 604863-0001 (2)
    Polymorphism Glu 114 Glu GAG/GAA 388 2



    (1)
    (2)

    References

    1. Ruiz,A., Kuehn,M.H., Andorf,J.L., Stone,E., Hageman,G.S., and Bok,D. Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium. 2001; Invest Ophthalmol.Vis.Sci. 42: 31-37.
      Link to PubMed
      Goto Top

    2. Thompson,D.A., Li,Y., McHenry,C.L., Carlson,T.J., Ding,X., Sieving,P.A., Apfelstedt-Sylla,E., and Gal,A. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. 2001; Nat.Genet. 28: 123-124.
      Link to PubMed
      Goto Top


    Return to Retina International's
    Scientific Newsletter
    Return to
    Mutation Database Page
    Return to pagehead

    Contact the editor
    Return to
    Database Page
    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