Scientific Newsletter
Mutations of the Arrestin Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Arrestin Gene |
Recent update from: 05.08.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| ARRP | 1147delA | AAC-_AC | 1147 |
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CD951815 |
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(3) | ||
| Oguchi disease | Arg 193 ter | CGA-TGA |
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CM971211 |
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(2)
To online reference |
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| Oguchi disease | 1147delA | AAC-_AC | 1147 |
|
CD951815 |
|
(1) | ||
| Polymorphism | IVS16+7c-t | tcg-ttg | IVS16 |
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|
|
(4) | ||
| Polymorphism | IVS1-22inst | tc_ta-tctta | IVS1 |
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|
|
(4) | ||
| Polymorphism | IVS5+11t-c | tcc-ttc | IVS5 |
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|
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(4) | ||
| Polymorphism | IVS5+23c-t | ccc-ctc | IVS5 |
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|
|
(4) | ||
| Polymorphism | IVS4+25g-a | ggc-gac | IVS4 |
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(4) | ||
| Polymorphism | IVS7+18g-c | tgc-tcc | IVS7 |
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|
|
(4) | ||
| Polymorphism | IVS4+66g-a | tgg-tag | IVS4 |
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|
|
(4) | ||
| Polymorphism | IVS9-18c-a | tcc-tac | IVS9 |
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|
|
(4) | ||
| Polymorphism | IVS10-26a-g | aaa-aga | IVS10 |
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|
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(4) | ||
| Polymorphism | IVS10-25a-g | aat-agt | IVS10 |
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|
|
(4) | ||
| Polymorphism | IVS15+21t-g | gtg-ggg | IVS15 |
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(4) | ||
| Polymorphism | IVS15+87a-c | cac-ccc | IVS15 |
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|
|
(4) | ||
| Polymorphism | IVS6+35t-c | att-act | IVS6 |
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|
|
(4) | ||
| Polymorphism | Gly 31 Gly | GGG-GGA | 2 |
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|
|
(4) | ||
| Polymorphism | Cys 67 Cys | TGC-TGT | 5 |
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(4) | ||
| Polymorphism | Ile 76 Val | ATT-GTT | 05 |
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|
(4) | ||
| Polymorphism | Ile 77 Val | GAC-GAT | 5 |
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|
(4) | ||
| Polymorphism | Arg 84 Cys | CGC-TGC | 5 | Heterozygous |
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|
(4) | ||
| Polymorphism | Leu 107 Leu | CTG-CTC | 5 |
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(4) | ||
| Polymorphism | Thr 125 Met | ACG-ATG |
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|
|
(4) | |||
| Polymorphism | Ala 163 Ala | GCC-GCT |
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|
(4) | |||
| Polymorphism | Leu 288 Leu | CTG-TTG |
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|
|
(4) | |||
| Polymorphism | Pro 364 Leu | CCT-CTT |
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|
(4) | |||
| Polymorphism | Val 378 Ile | GTT-ATT | 15 |
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(4) | ||
| Polymorphism | Arg 384 Cys | CGC-TGC | 15 | Homozygous |
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(4) | ||
| Polymorphism | Codon 403 | 15 | Multiallelic |
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(4) |
References
1. Fuchs, S., Nakazawa, M., Maw, M., Tamai, M., Oguchi, Y., and Gal, A. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 1995; Nat.Genet. 10: 360 - 362. 2. Maw, M., Kumaramanickavel, G., Kar, B., John, S., Bridges, C.D., and Denton, M. Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination. 1998; Hum.Mutat. Suppl 1: S317 - S319. 3. Nakazawa, M., Wada, Y., and Tamai, M. Arrestin gene mutations in autosomal recessive retinitis pigmentosa. 1998; Arch.Ophthalmol. 116: 498 - 501. 4. Sippel, K.C., DeStefano, J.D., Berson, E.L., and Dryja, T.P. Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. 1998; Invest.Ophthalmol.Vis.Sci. 39: 665 - 670.
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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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