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. 2022 Dec 4;58(12):1784. doi: 10.3390/medicina58121784

Figure 2.

Figure 2

Sequencing results of intron5_exon6 border in CRB2 (5′–3′). A homozygous mutation (c.941-3C>T) in the affected individuals is indicated by an arrow (a). c.941-3C>T in CRB2 in heterozygous state in parents of the affected individuals (b). Wild type sequence of intron5_exon6 border in CRB2 in healthy control individuals (c). Structure of the CRB2 gene showing coding exons and non-coding introns, 3′ and 5′ UTRs, and position of the identified mutation in splice acceptor site of intron 5 (d).