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Scientific Newsletter

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


SFD Ser 156 Cys TCC-TGC

SFD Gly 166 Cys GGC-TGC

SFD Gly 167 Val GGC-GTC

SFD Tyr 168 Cys TAC-TGC

SFD Ser 181 Cys AGC-TGC

(1) (4)


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.
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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.
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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.
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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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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