Scientific Newsletter Logo Retina International's

Scientific Newsletter

Mutation Database
Mutations of the Protein Kinase C g

Recent update from: 25.07.99

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
ADRP, RP11 Ser 659 Arg AGC-AGA
18 +AciI
Polymorphism Asn 189 Asn AAT-AAC

Polymorphism Gly 411 Gly GGC-GGT

Polymorphism Phe 647 Phe TTT-TTC

Rare Variant Arg 141 Cys

Rare Variant His 415 Gln

Rare Variant Ala 523 Asp

Rare Variant IVS16+39inst ins t



1. al Maghtheh, M., Vithana, E.N., Inglehearn, C.F., Moore, T., Bird, A.C., and Bhattacharya, S.S. Segregation of a PRKCG mutation in two RP11 families [letter]. 1998; Am.J.Hum.Genet. 62: 1248 - 1252.
Goto Top Link to PudMed

Return to Retina International's
Scientific Newsletter
Return to
Mutation Database Page
Return to pagehead

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 Pediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz