Article
Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin.
Proceedings of the National Academy of Sciences of the United States of America - 8 Dec 2009
Carroll Joseph, Baraas Rigmor C, Wagner-Schuman Melissa, Rha Jungtae, Siebe Cory A, Sloan Christina, Tait Diane M, Thompson Summer, Morgan Jessica I W, Neitz Jay, Williams David R, Foster David H, Neitz Maureen
Abstract excerpt
Missense mutations in the cone opsins have been identified as a relatively common cause of red/green color vision defects, with the most frequent mutation being the substitution of arginine for cysteine at position 203 (C203R). When the corresponding cysteine is mutated in rhodopsin, it disrupts proper folding of the pigment, causing severe, early onset retinitis pigmentosa. While the C203R mutation has been...
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