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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

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
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. 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
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    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

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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