Location of mutations of the OA1 gene associated with X-linked ocular albinism type 1. The red rectangular box represents the coding sequence of the OA1 gene. The orange boxes represent the location of transmembrane regions of the protein and the black dot represents the N-glycosylation site. Codon and nucleotide numbering is based on a 404 amino acid protein. Top, missense mutations; bottom, nonsense, frameshift and splice-site mutations.
GenBank accession (Z48804)
Bassi, M. T., Schiaffino, M. V., Renieri, A., De Nigris, F., Galli, L. Bruttini, M., Gebbia, M., Bergen, A. A. B., Lewis, R. A. Ballabio, A. Cloning of the gene for ocular albinism type I from the distal short arm of he X chromosome. Nature Genetics 10:13-19, 1995. [Link to article (PubMed)]
Schiaffino, M. V., Bassi, M. T., Balli, L., Renieri, A., Bruttini, M., De Nigris, F., Bergen, A. A. B., Charles, S. J., Yates, J. R. W., Meindl, A., Lewis, R. A., King, R. A., Ballabio, A. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Human Molecular Genetics 4: 2319-2325, 1995. [Link to article (PubMed)]
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Last changed August 21, 2001.