Fig. 2: Identification of a pathogenic variant of RBM20.
From: Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
A Sanger sequencing results of the RBM20 (NM_001134363.3) gene in healthy controls (left panel) and patients (right panel) are shown. The patients carry a heterozygous missense variant, NM_001134363.3 (RBM20_v001): c.1907 G > A, p.Arg636His. B In the RS region (marked in black) located in codons 613 to 673 of RBM20, all variants (upper row) of RBM20 that were registered as “pathogenic” or “likely pathogenic” in the ClinVar database are located in the RSRSP stretch domain (codons 634 to 638), shown in red. These variants were all found in patients with DCM. The variant (RBM20 p.R636H) found in this family with HCM (bottom row) is also located in the RSRSP stretch domain. DCM dilated cardiomyopathy, HCM hypertrophic cardiomyopathy.
