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. 2012 Jan 27;21(9):2039–2053. doi: 10.1093/hmg/dds022

Figure 1.

Figure 1.

Mutational analysis. (A) Schematic representation of the MYPN gene and localization of variants identified in patients with HCM (upper panel), DCM and RCM (lower panel). Asterisks indicate nonsense and damaging missense variants evaluated by the PolyPhen-2 prediction software. (B) DNA sequence chromatogram and pedigrees of families carrying p.Y20C (A) and p.Q529X (B) MYPN gene mutations. Grey arrows indicate nucleotide substitutions. Black arrows indicate proband, a positive mark indicates career and a negative mark indicates a screened individual with no mutation. p.Q529X (B) was inherited in two affected children (II1 and II2, lower panel) from a clinically unaffected mother (I2).