Scientific Newsletter
Mutations of the Tissue Inhibitor of Metalloproteases 3 Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Tissue Inhibitor of Metalloproteases 3 Gene |
Recent update from: 05.08.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Mutation map |
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Map |
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|||||
| SFD | Ser 156 Cys | TCC-TGC |
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CM951183 |
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(1) | |||
| SFD | Gly 166 Cys | GGC-TGC |
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CM971321 |
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(2) | |||
| SFD | Gly 167 Val | GGC-GTC |
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CM951184 |
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(3) | |||
| SFD | Tyr 168 Cys | TAC-TGC |
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CM941310 |
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(1) | |||
| SFD | Ser 181 Cys | AGC-TGC | +NsiI |
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CM941311 |
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(1) (4) |
References
1. Felbor, U., Stohr, H., Amann, T., Schonherr, U., and Weber, B.H.F. A Novel Ser156Cys Mutation In The Tissue Inhibitor Of Metalloproteinases 3 (TIMP3) In Sorsbys Fundus Dystrophy With Unusual Clinical Features. 1995; Hum.Mol.Genet. 4: 2415 - 2416. 2. Felbor, U., Suvanto, E.A., Forsius, H.R., Eriksson, A.W., and Weber, B.H. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. 1997; Am.J.Hum.Genet. 60: 57 - 62. 3. Jacobson, S.G., Cideciyan, A.V., Regunath, G., Rodriguez, F.J., Vandenburgh, K., Sheffield, V.C., and Stone, E.M. Night blindness in Sorsby's fundus dystrophy reversed by vitamin. 1995; Nat.Gen. 11: 27 - 32. 4. Weber, B.H., Vogt, G., Pruett, R.C., Stohr, H., and Felbor, U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. 1994; Nat.Genet. 8: 352 - 356.
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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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