Scientific Newsletter
Mutations of the RP2 Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the RP2 Gene |
Recent update from: 04.08.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| RP2 | Microdeletion | del ex 4 | 4 |
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(3) | ||
| RP2 | IVS1insLINE1 | LINE1 Retrotransposon | IVS1 |
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(3) | ||
| RP2 | 16delTCC | TCC-___ | 0016 | 1 |
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(3) | |
| RP2 | 77insCA | insCA | 077 | 1 |
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(2) | |
| RP2 | Gln 26 ter | CAG-TAG | 0076 | 1 |
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(3) | |
| RP2 | Cys 108 Gly | T-G | 322 | 2 |
Compound 330del13bp |
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(2) | |
| RP2 | 330del13bp | del13bp | 330 | 2 |
Compound C108G |
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(2) | |
| RP2 | Arg 118 His | CGT-CAT | 0353 | 2 |
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(3) | |
| RP2 | Arg 120 ter | CGA-TGA | 0358 | 2 |
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(1) | |
| RP2 | Arg120 ter | C-T | 358 | 2 |
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(2) | |
| RP2 | Tyr 151 ter | TAC-TAG | 0453 | 2 |
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(3) | |
| RP2 | 453delC | TAC-TA_ | 0453 | 2 |
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(3) | |
| RP2 | 483ins7bp | insGGGCTAA | 0483 | 2 |
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(2) | |
| RP2 | 688del5bp | GAA GAG CAG-G__ ___ CAG | 0688 | 2 |
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(1) | |
| RP2 | 925insAG | insAG | 0925 | 4 |
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(2) | |
| RP2 | 929insT | GTA-GTTA | 0929 | 4 |
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(1) |
References
1. Hardcastle, A.J., Thiselton, D.L., Van Maldergem, L., Saha, B.K., Jay, M., Plant, C., Taylor, R., Bird, A.C., and Bhattacharya, S. Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study. 1999; Am.J.Hum.Genet. 64: 1210 - 1215. 2. Mears, A.J., Gieser, L., Yan, D., Chen, C., Fahrner, S., Hiriyanna, S., Fujita, R., Jacobson, S.G., Sieving, P.A., and Swaroop, A. Protein-truncation mutations in the RP2 gene in a north american cohort of families with X-linked retinitis pigmentosa. 1999; Am.J.Hum.Genet. 64: 897 - 900. 3. Schwahn, U., Lenzner, S., Dong, J., Feil, S., Hinzmann, B., van Duijnhoven, G., Kirschner, R., Hemberger, M., Bergen, A.A., Rosenberg, T., Pinckers, A.J., Fundele, R., Rosenthal, A., Cremers, F.P., Ropers, H.H., and Berger, W. Positional cloning of the gene for X-linked retinitis pigmentosa 2. 1998; Nat.Genet. 19: 327 - 332.
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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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