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Scientific Newsletter


Mutation Database
Mutations of the Photoreceptor cell-specific Nuclear Receptor
(NR2E3, PNR)

Recent update from: Fehler! Verweisquelle konnte nicht gefunden werden.


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Enhanced S-Cone Syndrome IVS1-2a-c tcagg-tccgg
IVS1


604485-0001 (1)
Enhanced S-Cone Syndrome 67 - 69 del 3 AA del 9 bp




604485-0004 (1)
Enhanced S-Cone Syndrome Arg 76 Gln CGG-CAG




604485-0003 (1)
Enhanced S-Cone Syndrome Arg 76 Trp CGG-UGG




604485-0002 (1)
Enhanced S-Cone Syndrome Arg 97 His CGC-CAC



Homozygous


(1)
Enhanced S-Cone Syndrome Arg 104 Trp CGG-UGG





(1)
Enhanced S-Cone Syndrome Glu 121 Lys GAG-AAG





(1)
Enhanced S-Cone Syndrome Trp 234 Ser TGG-TCG





(1)
Enhanced S-Cone Syndrome Arg 309 Gly CGG-GGG





(1)
Enhanced S-Cone Syndrome Arg 311 Gln CGG-CAG





(1)
Enhanced S-Cone Syndrome Arg 385 Pro CGC-CCC





(1)
Enhanced S-Cone Syndrome Met 407 Lys ATG-AAG



Homozygous


(1)
Polymorphism IVS1 t-c t-c
IVS 1



(1)
Polymorphism
g-a
IVS 2



(1)
Polymorphism IVS1 16 bp del del 16 bp
IVS 1



(1)
Polymorphism Ala 111 Ala GCG-GCA





(1)
Polymorphism Glu 140 Gly G-A





(1)
Polymorphism Met 163 Thr ATG-ACG





(1)
Polymorphism Val 232 Ile G-A





(1)
Polymorphism Thr 294 Thr ACG-ACA





(1)
Polymorphism Val 302 Ile G-A





(1)

References

1. Haider, N.B., Jacobson, S.G., Cideciyan, A.V., Swiderski, R., Streb, L.M., Searby, C., Beck, G., Hockey, R., Hanna, D.B., Gorman, S., Duhl, D., Carmi, R., Bennett, J., Weleber, R.G., Fishman, G.A., Wright, A.F., Stone, E.M., and Sheffield, V.C. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate [see comments]. 2000; Nat.Genet. 24: 127 - 131.
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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz