Retina International's Scientific Newsletter - Fascin Gene Mutations

	Retina International's 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

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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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