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. 2013 Aug 4;22(25):5136–5145. doi: 10.1093/hmg/ddt367

Figure 3.

Figure 3.

Functional confirmation of ABCA4 variants in patient-derived cell lines. RT-PCR analysis of ABCA4 in RNA extracted from human control retina (lane 1), human keratinocytes isolated from an unaffected individual (lane 2) and human keratinocytes isolated from a patient with ABCA4 associated retinal degeneration (lane 3). Two intronic splice site mutations (V1, A; and V2, B) in IVS 36 of the ABCA4 gene result in the introduction of an alternate exon (36.1, Fig. 2). An intronic splice site mutation within IVS 36 results in the introduction of a 177 bp segment of IVS 36 (V3, C). A synonymous codon change (Val2114Val) in exon 46 creates a premature donor splice site that results in deletion of the last 47 bases of exon 46 from the transcript (V6, D).