Scientific Newsletter
Mutations of the Photoreceptor cell-specific Nuclear Receptor
(NR2E3, PNR)
|
Retina International's 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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Molecular Genetics Laboratory
Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz