Scientific Newsletter
Mutations of the Phosducin Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Phosducin Gene |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| AZOOR | Asp 174 Lys | AAT-AAG | 522 | 4 |
non-pathogenic Heterozygous |
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(1) | |
| Polymorphism | 1131a-g | a-g | 1131 | 4 |
Heterozygous Compound -9g-a polymorphism |
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(1) | |
| Polymorphism | 803a-g | a-g | 803 | 4 |
Heterozygous In LCA patient |
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(1) | |
| Polymorphism | -1083t-g | t-g | -1083 | 5'UTR |
T=74% G=26% PIC: 0.39 |
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(2) | |
| Polymorphism | -488 del t | atc-a_c | -488 | 5'UTR |
T=87% PIC: 0.23 |
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(2) | |
| Polymorphism | -673 ins g | a_a-aga | -673 | 5'UTR |
G=51% PIC: 0.5 |
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(2) | |
| Polymorphism | -9g-a | g-a | -9 | 2 |
Heterozygous Compound 1131a-g polymorphism |
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(1) | |
| USH2 | Gly 178 Arg | GGG-GGA | 532 | 4 |
non-pathogenic Heterozygous |
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(1) |
References
1. Ara Iwata, F., Jacobson, S.G., Gass, J.D., Hotta, Y., Fujiki, K., Hayakawa, M., and Inana, G. Analysis of phosducin as a candidate gene for retinopathies. 1996; Ophthalmic Genet. 17: 3 - 14. 2. Mansergh, F.C., Jordan, S.A., Farrar, G.J., Kumarsingh, R., Gal, A., Bhattacharya, S., and Humphries, P. Three sequence polymorphisms in the PDC gene. 1994; Hum.Mol.Genet. 3: 2077
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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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