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Figure 1. Mutation Spectrum of CS-A
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Location of the mutations in the CSA gene. Legend- CSA protein and amino acid changes caused by the mutations detected in nine patients with Cockayne syndrome. The diagram shows the CSA protein with the putative WD repeats (red boxes). The amino acid changes are shown boxed with the change in black on yellow. Mutations detected on the cDNA are shown with the change in black on white whereas those detected on the genomic DNA are shown boxed with the change in black on white. The numbers 1 and 2 after the patient code denote the different alleles. Patient code in blue: CS classical form; patient code in black: CS severe form, patient code in grey: CS severity not specified. The patients CS5BR and CS6BR are reported in Henning et al. (1995), CS2IAF in McDaniel et al. (1997), CS2OS, Cs2AW, Nps2, Mps1 and CS2SE in Ren et al. (2003), AG07075 in Cao et al. (2004). Reproduced with permission from Miria Stefanini. (revised 6/2004) |