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Fig. 5 | Genome Medicine

Fig. 5

From: Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

Fig. 5

Proposed pathogenetic mechanism of the RDH12: c.[-123C>T];[701G>A] complex allele. Graphical representation of the RDH12 wild-type allele (top) and the RDH12 complex allele harboring the c.701G>A (p.Arg234His) and the c.-123C>T variants (bottom). The 5’UTR variant introduces an upstream start codon into a strong Kozak sequence which can be recognized by ribosomes. Either initiation or active translation of the introduced upstream open reading frame (uORF) results in lower translational efficiency of the primary open reading frame (pORF). As a result, there is a decreased level of RDH12 protein with the arginine-to-histidine amino acid substitution at position 234 (blue point)

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Genome Medicine

ISSN: 1756-994X

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