Scientific Newsletter
Mutations of the RP1 Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the RP1 Gene |
Recent update from: 04.08.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| ADRP | Arg 677 ter | CGA-TGA | 4 | -TaqI | Homozygous individuals are more affected |
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603937-0001 |
(2)
(1) |
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| ADRP | Gln 679 ter | CAA-TAA | 4 | -Cac8I |
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603937-0004 | (2) | |
| ADRP | 2433del5bp | TTA AAT ACT-T__ ___ ACT | 2433 | 4 |
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603937-0002 | (1) | |
| ADRP | 2435del 4bp | AAT ACT ACT-___ _CT ACT | 2435 | 4 |
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603937-0003 | (1) | |
| Polymorphism | Arg 872 His | CGT-CAT | 4 |
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(2) | ||
| Polymorphism | Asn 985 Tyr | AAT-TAT | 4 |
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|
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(2) | ||
| Polymorphism | Ala 1670 Thr | GCA-ACA | 4 |
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(2) | ||
| Polymorphism | Ser 1691 Pro | TCT-CCT | 4 |
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(2) | ||
| Polymorphism | Gln 1725 Gln | CAA-CAG | 4 |
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(2) | ||
| Polymorphism | Cys 2033 Tyr | TGT-TAT | 4 |
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(2) |
References
1. Pierce, E.A. and Quinn, T.J. A Novel Photoreceptor Gene Is A Candidate Disease Gene For Retinitis Pigmentosa 1. 1999; Invest.Ophthalmol.Vis.Sci. 40: S602 2. Sullivan, L.S., Heckenlively, J.R., Bowne, S.J., Zuo, J., Hide, W.A., Gal, A., Denton, M., Inglehearn, C.F., Blanton, S.H., and Daiger, S.P. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. 1999; Nat.Genet. 22: 255 - 259.
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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 |
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