Fig. 1.

MYOM2 mutations and expression in patients. (A) Schematic of MYOM2, with its domain structure and mutations found in TOF (blue) and HCM (red) patients. Mutation positions are based on the human reference genome hg38. Nucleotide changes are based on transcript ENST00000262113. Amino acid changes are based on protein ENSP00000262113. Damage prediction by PolyPhen2, SIFT or MutationTaster are indicated by ‘#’. The minor allele frequency (MAF) is based on 71,702 genomes from unrelated individuals of the gnomAD (v3). The binding sites of two interaction partners, MYH7 and creatine kinase (muscle isoform), are indicated below. (B) RNA-seq expression level of MYOM2 in RV tissue of TOF patients and normal hearts (NH). P-value is derived from an unpaired two-sided Student's t-test. Boxplots depict the median and interquartile range, and whiskers show minimum and maximum values. FPKM, fragments per kilobase million; het, heterozygous variation; hom, homozygous variation Schematic based on Agarkova et al. (2005).