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. 2010 May 14;86(5):805–812. doi: 10.1016/j.ajhg.2010.04.001

Figure 3.

Figure 3

Sequence Chromatogram of the Splice-Site Mutation Identified in Family PKRP179, and the Predicted Effect of this Conserved Splice-Acceptor Site

(A) Sequence chromatograms of a wild-type (top) and homozygote (bottom) for the IVS1-2A>G splice-site mutation.

(B) The predicted effect of the mutation on the splicing of alternative exon 2a. The arrow points to the adenine residue mutated in family PKRP179.

(C) Sequence conservation of the acceptor splice site and of exon 2a in BBS8 orthologs (primates are colored green; placental mammals are blue; vertebrates are purple). The acceptor site is conserved in 33 of 33 species with available genomic sequence for this locus, whereas the donor site at the 3′ end of the exon is conserved in 32 of 33 species. Arrow points to the splice acceptor site mutated in family PKRP179.