Scientific Newsletter
Mutations of the Cone Cyclic Nucleotide-gated Cation Channel
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Cone Cyclic Nucleotide-gated Cation Channel |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Achromatopsia | Pro 163 Leu | C-T | 0528 | 5 | -NlaIV | Homozygous |
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(1) |
| Achromatopsia | Arg 283 Trp | C-T | 0887 | 7 | -MspI | Homozygous |
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(1) |
| Achromatopsia | Arg 283 Gln | G-A | 0888 | 7 | Heterozygous |
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|
(1) | |
| Achromatopsia | Thr 291 Arg | C-G | 0912 | 7 | Heterozygous |
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|
(1) | |
| Achromatopsia | Arg 411 Trp | C-T | 1268 | 7 | +NlaIII | Heterozygous |
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(1) |
| Achromatopsia | Val 529 Met | G-A | 1625 | 7 | +NcoI | Heterozygous |
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(1) |
| Achromatopsia | Phe 547 Leu | C-A | 1681 | 7 | Heterozygous |
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(1) | |
| Achromatopsia | Gly 557 Arg | G-A | 1709 | 7 | Heterozygous |
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(1) | |
| Polymorphism | IVS4+91g-c | g-c | IVS4 |
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(1) | ||
| Polymorphism | IVS2+46g-t | g-t | IVS2 |
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(1) | ||
| Polymorphism | IVS2+16g-a | g-a | IVS2 |
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(1) | ||
| Polymorphism | Asp 24 Asp | C-T | 0112 | 1 |
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(1) | |
| Polymorphism | Thr 66 Thr | C-T | 0238 | 2 |
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(1) | |
| Polymorphism | Thr 153 Met | C-T | 0498 | 5 | -BbsI |
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(1) |
References
1. Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S.G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L.T., and Wissinger, B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 1998; Nat.Genet. 19: 257 - 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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