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Scientific Newsletter

Mutation Database
Mutations of the RP1 Gene

Recent update from: 04.08.99

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
ADRP Arg 677 ter CGA-TGA
4 -TaqI Homozygous individuals are more affected
603937-0001 (2)
ADRP Gln 679 ter CAA-TAA
4 -Cac8I

603937-0004 (2)
ADRP 2433del5bp TTA AAT ACT-T__ ___ ACT 2433 4

603937-0002 (1)
ADRP 2435del 4bp AAT ACT ACT-___ _CT ACT 2435 4

603937-0003 (1)
Polymorphism Arg 872 His CGT-CAT

Polymorphism Asn 985 Tyr AAT-TAT

Polymorphism Ala 1670 Thr GCA-ACA

Polymorphism Ser 1691 Pro TCT-CCT

Polymorphism Gln 1725 Gln CAA-CAG

Polymorphism Cys 2033 Tyr TGT-TAT



1. Pierce, E.A. and Quinn, T.J. A Novel Photoreceptor Gene Is A Candidate Disease Gene For Retinitis Pigmentosa 1. 1999; Invest.Ophthalmol.Vis.Sci. 40: S602
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2. Sullivan, L.S., Heckenlively, J.R., Bowne, S.J., Zuo, J., Hide, W.A., Gal, A., Denton, M., Inglehearn, C.F., Blanton, S.H., and Daiger, S.P. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. 1999; Nat.Genet. 22: 255 - 259.
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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