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. Author manuscript; available in PMC: 2022 Nov 24.
Published in final edited form as: J Am Coll Cardiol. 2011 May 24;57(21):2160–2168. doi: 10.1016/j.jacc.2010.09.084

Figure 2. SCN5A Sequencing Results of the Familial Cardiomyopathy Registry.

Figure 2

(A) Chromatograms demonstrating heterologous peaks in nucleotide sequence. For this report, samples manifesting abnormal elution profile on the WAVE system were sequenced, and 4 new missense mutations were identified among our dilated cardiomyopathy (DCM) population. (B) Relative locations of all currently reported DCM missense mutations of SCN5A superimposed on a schematic of the SCN5A protein (7,8,10). Red denotes 5 total missense mutations identified within the Familial Cardiomyopathy Registry, including the 4 new mutations reported here and D1275N identified previously (7).