Fig. 1.

Domain schematic of giant obscurins and localization of known OBSCN mutations linked to myopathy (based on accession numbers NP- 001092093 or NP-001258152 when mutations are marked with an asterisk, *). To date, there are seven known mutations associated with HCM (shown in blue), four mutations associated with DCM (shown in red), three mutations associated with LVNC (shown in green), one mutation associated with a case of systolic heart failure with hereditary ataxia (shown in orange), and one mutation linked to distal myopathy (shown in purple). Three polymorphisms that have been classified as non-pathogenic are shown in gray