Skip to main content


Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Fig. 5 | Genome Medicine

Fig. 5

From: Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

Fig. 5

Distribution of rare variants in CPVT and ExAC cohorts for RYR2. All rare RYR2 non-truncating (missense and single amino acid inframe indel variants) variants in 1355 CPVT cases (well-phenotyped and referral) and ExAC are shown alongside a cartoon of the cDNA structure. Darker grey indicates higher variant density (overlapping variants not plotted separately). Three regions enriched for disease-associated variation were identified (shown in red)—residues 2138–2538, 3935–4196 and 4721–4959. Exons used in previously defined hotspot regions (original 41 exons and refined 21 exons) are highlighted as shown

Back to article page