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Scientific Newsletter


Mutation Database
Mutations of the Fascin Gene (FSCN2)

Recent update from: 19.08.2002


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
ADRP 208delG G - _ 208




(1)
Polymorphism Thr 193 Thr ACG - ACA





(1)
Polymorphism Pro 228 Pro CCT - CCC





(1)
Sequence




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


References

  1. Wada,Y. Mutation Of Human Retinal Fascin Gene FSCN2 Causes Autosomal Dominant Retinitis Pigmentosa. 2001; Invest Ophthalmol.Vis.Sci. 42: S324
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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