Mutation Database
Mutations of the RNA Processing Factor 31
(PRPF31)

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

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
IVS6

RP1907


(2)
RP11 IVS6-3del42bp del 42 bp
IVS6

RP677


(2)
RP11 1115del12bp del12bp 1115 11

AD5


(2)
RP11 580dup33bp dup33bp 580 07

SP14


(2)
RP11 Ala 194 Glu C>A 581 07

SP42


(2)
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

(2)
(1)
RP11 769insA _>A 769 08

SP117


(2)

References

  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