Mutation Database
Mutations of the Precursor mRNA Processing Protein 8
(PRPC8)

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.




RP13 Pro 2301 Thr CCC>ACC 6942 42
English 614, 161

(2)
RP13 Phe 2304 Leu TTC>TTG 6953 42
English 162, 622

(2)
RP13 His 2309 Arg CAC>CGC 6967 42 -ApaL1
South African


(2)
RP13 His 2309 Pro CAC>CCC 6967 42 -ApaL1
England


(2)
RP13 Arg 2310 Gly AGG>GGG 6969 42
English 189

(2)
RP13 Arg 2310 Lys AGG>AAG 6970 42 -HaeIII, -DraIII
Dutch


(2)
(3)
RP13 6972del6bp ins11 bp CTT>ATT 6972 42

Japanese


(1)
RP13 Phe 2314 Leu CTT>ATT 6983 42
English 690

(2)

References

  1. Kondo,H., Tahira,T., Mizota,A., Adachi-Usami,E., Oshima,K., and Hayashi,K. Diagnosis of autosomal dominant retinitis pigmentosa by linkage-based exclusion screening with multiple locus-specific microsatellite markers. 2003; Invest.Ophthalmol.Vis.Sci. 44: 1275-1281.
    Link Goto Top
  2. McKie,A.B., McHale,J.C., Keen,T.J., Tarttelin,E.E., Goliath,R., van Lith-Verhoeven,J.J., Greenberg,J., Ramesar,R.S., Hoyng,C.B., Cremers,F.P., Mackey,D.A., Bhattacharya,S.S., Bird,A.C., Markham,A.F., and Inglehearn,C.F. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). 2001; Hum.Mol.Genet. 10: 1555-1562.
    Link Goto Top
  3. van Lith-Verhoeven,J.J., van der Velde-Visser,SD., Sohocki,M.M., Deutman,A.F., Brink,H.M., Cremers,F.P., and Hoyng,C.B. Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). 2002; Ophthalm.Genet. 23: 1-12.
    Link 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