Scientific Newsletter
Mutations of the Cyclic Nucleotide-gated Cation Channel
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Cyclic Nucleotide-gated Cation Channel |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Mutation map | Map |
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| ARRP | Glu 76 ter | GAG-TAG |
Heterozygous No maternal allele N-terminus |
CM950309 | 123825-0001 |
(1)
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| ARRP | Lys 139 ter | AAA-TAA |
Heterozygous Compound S316F N-terminus |
CM950310 | 123825-0002 |
(1)
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| ARRP | Ser 316 Phe | TCT-TTT |
Heterozygous Compound L319X Heterozygous in a patient with adRP (6003) 5th membrane domain |
CM950311 | 123825-0003 |
(1)
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| ARRP | Arg 654 1 bp del | AAA-AA_ |
Homozygous C-terminus |
CD951622 | 123825-0004 |
(1)
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| Polymorphism | Arg 28 Gln | CGA-CAA |
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(1)
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| Polymorphism | Glu 100 Glu | GAA-GAG |
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(1)
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| Polymorphism | Asp 114 Asn | GAT-AAT |
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(1)
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| Polymorphism | Thr 469 Thr | ACA-ACG |
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(1)
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| Polymorphism | Phe 540 Phe | TTC-TTT |
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(1)
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| Polymorphism | IVS3-29a-t | a-t | IVS3 |
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(1)
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| Polymorphism | IVS5-26c-t | c-t | IVS5 |
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(1)
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| Polymorphism | Poly (A) repeat | IVS8 |
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(1)
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References
1. Dryja, T.P., Finn, J.T., Peng, Y.W., McGee, T.L., Berson, E.L., and Yau, K.W. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. 1995; Proc.Natl.Acad.Sci.U.S.A. 92: 10177 - 10181.
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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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