Retina International's Scientific Newsletter - Lecithin Retinol Acyltransferase Gene Mutations

	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	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

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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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
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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