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Scientific Newsletter


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




Map

OCA3 Ser 166 ter TCA-TGA


Compound
368delA
CM971371
(2)
OCA3 cd 368delA GGAAAG-GGAA_G


Heterozygous
Compound
S166X
CD962039
(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.
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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