Phenotype: Retinitis pigmentosa 20


OMIM: 613794
Inheritance: Autosomal recessive
Classification: Diseases of the eye and adnexa

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RPE65 || c.271C>T

Gene/Locus:    RPE65
Dna Change:    c.271C>T
Protein Change:    p.Arg91Trp
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 4
Transcript:    NM_000329.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA10 patients / 3 familiesNAEl Matri L et al., 2006El Matri L, Ambresin A, Schorderet DF, Kawasaki A, Seeliger MW, Wenzel A, Arsenijevic Y, Borruat FX, Munier FL, . Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.. Graefes Arch. Clin. Exp. Ophthalmol.. 2006; 244(9):1104-12

References

El Matri L, Ambresin A, Schorderet DF, Kawasaki A, Seeliger MW, Wenzel A, Arsenijevic Y, Borruat FX, Munier FL, Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.Graefes Arch. Clin. Exp. Ophthalmol.. 2006; 244(9):1104-12