Phenotype: Retinitis pigmentosa 37


OMIM: 611131
Inheritance: Multiple
Classification: Diseases of the eye and adnexa

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NR2E3 || c.932G>A (G1020A)

Gene/Locus:    NR2E3
Dna Change:    c.932G>A (G1020A)
Protein Change:    p.Arg311Gln
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 6
Transcript:    NM_014249.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
CyprusJewsBelmonteNAbetween 200 and 500 years agoGerber 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