Scientific Newsletter
Mutations of the Transducin Subunits
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Transducin Subunits |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Mutation map |
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Map |
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| CSNB (Nougaret) | Gly 38 Asp | GGT-GAT | 2 | -HphI | G38 forms hydrogen bonds to GTP/GDP | CM960756 |
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(1) |
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Polymorphism | Val 173 Met | GTG-ATG | 4360 | 4 |
Heterozygous Two controls positive |
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(3) | |
| Stargardt's disease | Val 124 Met | GTG-ATG | 4 |
Heterozygous One control was positive |
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(4) | ||
| Stargardt's disease | Asp 238 Asp | GAT-GAC | 6 |
Heterozygous Silent change |
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(4) |
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
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| Polymorphism | IVS4+38g-a | g-a | IVS4 |
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(2) | ||
| Polymorphism | IVS4+9insg | ins g | IVS4 |
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(2) | ||
| Polymorphism | Gly 272 Ser | g-a | 9 |
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(2) | ||
| Polymorphism | Ser 275 Ser | c-t | 825 | 9 |
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(2) |
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Polymorphism | -31g-t | g-t | -031 | 5'UTR |
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(2) | |
| Polymorphism | IVS3+17delc | del c | 3'UTR |
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(2) | ||
| Polymorphism | Leu 11 Phe | g-t | 2 |
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(2) | ||
| Polymorphism | Gln 17 Arg | a-g | 2 |
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(2) |
References
1. Dryja, T.P., Hahn, L.B., Reboul, T., and Arnaud, B. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 1996; Nat.Genet. 13: 358 - 360. 2. Gao, Y.Q., Danciger, M., Akhmedov, N.B., Zhao, D.Y., Heckenlively, J.R., Fishman, G.A., Weleber, R.G., Jacobson, S.G., and Farber, D.B. Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease. 1998; Mol.Vis. 4: 16 3. Gerber, S., Rozet, J.M., Bonneau, D., Souied, E., Weissenbach, J., Frezal, J., Munnich, A., and Kaplan, J. Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease. 1995; Hum.Genet. 95: 382 - 384. 4. Magovcevic, I., Weremowicz, S., Morton, C.C., Fong, S.L., Berson, E.L., and Dryja, T.P. Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease. 1995; Genomics. 25: 288 - 290.
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This site is maintained and edited by
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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