OMIM: 613794 Inheritance: Autosomal recessive
Classification: Diseases of the eye and adnexa
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | RPE65 |
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| Dna Change: | c.271C>T |
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| Protein Change: | p.Arg91Trp |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 4 |
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| Transcript: | NM_000329.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 10 patients / 3 families | NA | El 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