OMIM: 611131Inheritance: Multiple
Classification: Diseases of the eye and adnexa
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | NR2E3 |
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| Dna Change: | c.932G>A (G1020A) |
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| Protein Change: | p.Arg311Gln |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 6 |
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| Transcript: | NM_014249.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Cyprus | Jews | Belmonte | NA | between 200 and 500 years ago | Gerber S et al., 2000Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, Penet C, Perrault I, Ducroq D, Souied E, Jeanpierre M, Romana S, Frézal J, Ferraz F, Yu-Umesono R, Munnich A, Kaplan J, . The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.. Hum. Genet.. 2000; 107(3):276-84 |
References
Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, Penet C, Perrault I, Ducroq D, Souied E, Jeanpierre M, Romana S, Frézal J, Ferraz F, Yu-Umesono R, Munnich A, Kaplan J, The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.Hum. Genet.. 2000; 107(3):276-84