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Scientific Newsletter

Mutation Database
Mutations of the EGF-containing fibulin-like extracellular matrix protein 1

Recent update from: 18.07.99

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

Mutation map


ML/DHRD Arg 345 Trp CGG-TGG 1033 10

Polymorphism Thr 181 Thr ACG-ACA 0543

Polymorphism Ile 220 Phe ATC-TTC 0658

Polymorphism Ser 456 Ser TCA-TCG 1368



1. Stone, E.M., Lotery, A.J., Munier, F.L., Heon, E., Piguet, B., Guymer, R.H., Vandenburgh, K., Cousin, P., Nishimura, D., Swiderski, R.E., Silvestri, G., Mackey, D.A., Hageman, G.S., Bird, A.C., Sheffield, V.C., and Schorderet, D.F. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. 1999; Nat.Genet. 22: 199 - 202.
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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz