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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin

Fig. 1

Identification of the novel R205Q troponin T mutation. a A model of the troponin complex, built from partial crystal structures of the human cardiac troponin complex of TnT (green), TnI (blue), and TnC (red) (Adapted from [22], PDB 1J1E). The R205Q mutation is shown in purple. b Pedigree for the family studied demonstrating inheritance of TNNT2 mutation. Squares denote males, circles females, and the diamond denotes multiple family members (7 in total) for brevity. Arrow denotes the proband. c Raw chromatogram data from the sequencing of the TNNT2 variant in multiple family members. DCM = dilated cardiomyopathy. SCD = sudden cardiac death

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BMC Medical Genetics

ISSN: 1471-2350

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