Scientific Newsletter
Mutations of the L-type Calcium-Channel Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the L-type Calcium-Channel Gene |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| CSNB2 | 1023delC | GAC-GA_ | 1023 | 9 | +FokI |
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(1) |
| CSNB2 | Gly 369 Asp | G-A | 1106 | 08 |
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(2) | |
| CSNB2 | Arg 508 Gln | G-A | 1523 | 13 |
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(2) | |
| CSNB2 | Arg 830 ter | CGA-TGA | 2488 | 21 | +FokI |
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(1) |
| CSNB2 | Arg 958 ter | C-T | 2172 | 24 |
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(2) | |
| CSNB2 | Leu 991 insC | ins C | 1023 | 27 |
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(1) | |
| CSNB2 | 3133insC | ins C | 3133 | 27 |
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|
(2) | |
| CSNB2 | Arg 1049 Trp | C-T | 3145 | 27 |
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(2) | |
| CSNB2 | 3477delC | ATC-AT_ | 3477 | 30 | -FokI |
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(1) |
| CSNB2 | 3658-3669del | del 12 bp | 3658 | 30 |
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(2) | |
| CSNB2 | Arg 1234 ter | CGA-TGA | 3702 | 33 | -DdeI |
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(1) |
| CSNB2 | Gln 1348 ter | C-T | 4042 | 35 |
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(2) | |
| CSNB2 | Leu 1364 His | T-A | 4091 | 35 |
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(2) | |
| CSNB2 | Trp 1386 ter | TGG-TGA | 4158 | 37 | -AvaII |
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(1) |
| CSNB2 | Lys 1591 ter | A-T | 4771 | 41 |
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(2) |
References
1. Bech Hansen, N.T., Naylor, M.J., Maybaum, T.A., Pearce, W.G., Koop, B., Fishman, G.A., Mets, M., Musarella, M.A., and Boycott, K.M. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 1998; Nat.Genet. 19: 264 - 267. 2. Strom, T.M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B.H., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., and Meindl, A. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 1998; Nat.Genet. 19: 260 - 263.
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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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