Fig. 2: The p.Gly45Glu GJB2 variant associated with severe pediatric disease is rescued by a modifying variant in the East Asian genetic ancestry group. | Nature Communications

Fig. 2: The p.Gly45Glu GJB2 variant associated with severe pediatric disease is rescued by a modifying variant in the East Asian genetic ancestry group.

From: Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Fig. 2: The p.Gly45Glu GJB2 variant associated with severe pediatric disease is rescued by a modifying variant in the East Asian genetic ancestry group.

a Schematic of the rescue mechanisms where the modifying p.Tyr136Ter nonsense variant in cis with the dominant-negative disease-causing p.Gly45Glu missense variant, results in incomplete penetrance by mono-allelic expression of the reference allele only (green). b Paired individual-level read data of the two variants occurring in cis. c East Asian (n = 34) and Admixed American (n = 1) individuals carrying both the pathogenic p.Gly45Glu variant (left panel) and the p.Tyr136Ter modifying variant (right panel).

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