Fig. 2: Two examples of common pathogenic SNVs that could be corrected by direct A-to-G editing. | npj Genomic Medicine

Fig. 2: Two examples of common pathogenic SNVs that could be corrected by direct A-to-G editing.

From: DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants

Fig. 2: Two examples of common pathogenic SNVs that could be corrected by direct A-to-G editing.

a The known missense variant causing achondroplasia syndrome (FGFR3):c.1138G>A (p.Gly380Arg). Direct base editing could revert the mutant A to a G. b The most common nonsense variant among Ashkenazy Jews causing severe cystic fibrosis (CFTR): c.3846G>A (W1282X). Direct base editing could revert the mutant A to G, thereby converting the stop codon to tryptophan (W). However, G nucleotide 5’ to the edited A may challenge this process, as can be gleaned from the ADAR motif.

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