Scientific Newsletter
Mutations of the Tyrosinase-related Protein 1 Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Tyrosinase-related Protein 1 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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| OCA3 | Ser 166 ter | TCA-TGA |
Compound 368delA |
CM971371 |
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(2) | |||
| OCA3 | cd 368delA | GGAAAG-GGAA_G |
Heterozygous Compound S166X |
CD962039 |
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(2)
(1) |
References
1. Boissy, R.E., Zhao, H., Oetting, W.S., Austin, L.M., Wildenberg, S.C., Boissy, Y.L., Zhao, Y., Sturm, R.A., Hearing, V.J., King, R.A., and Nordlund, J.J. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". 1996; Am.J.Hum.Genet. 58: 1145 - 1156. 2. Manga, P., Kromberg, J.G., Box, N.F., Sturm, R.A., Jenkins, T., and Ramsay, M. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. 1997; Am.J.Hum.Genet. 61: 1095 - 1101.
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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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