Mutation Database
Mutations of the RNA Processing Factor 31

Recent update from: 03.04.2005
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference

0 0
The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.

RP11 IVS6+3A-G A>G


RP11 IVS6-3del42bp del 42 bp


RP11 1115del12bp del12bp 1115 11


RP11 580dup33bp dup33bp 580 07


RP11 Ala 194 Glu C>A 581 07


RP11 Ala 216 Pro G>C 646 07
Impedes but does not entirely prevent translocation of protein from the site of synthesis to the nucleus AD29

RP11 769insA _>A 769 08




  1. Deery,E.C., Vithana,E.N., Newbold,R.J., Gallon,V.A., Bhattacharya,S.S., Warren,M.J., Hunt,D.M., and Wilkie,S.E. Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. 2002; Hum.Mol.Genet. 11: 3209-3219.
    Link Goto Top
  2. Vithana,E.N., Abu-Safieh,L., Allen,M.J., Carey,A., Papaioannou,M., Chakarova,C., al Maghtheh,M., Ebenezer,N.D., Willis,C., Moore,A.T., Bird,A.C., Hunt,D.M., and Bhattacharya,S.S. A human homologue of yeast pre mRNA-splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). 2001; Am.J.Hum.Genet. 69: 229 Goto Top

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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