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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation

Fig. 4

Pathogenic mutations in the DSG2 protein and structure of KCNE5 mutations. a secondary structure of DSG2 protein (NP_001934.2), which consists of 1118 amino acids. The pathogenic mutation related to ARVC/D, hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) were displayed according to PubMed ClinVar and recent reports from PubMed. b-d primary (b) and tertiary (c–d) structure changes of KCNE5 p.D92E/E93X mutation and wildtype of KCNE5, constructed by Swiss-model. *, stop-gain

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BMC Medical Genetics

ISSN: 1471-2350

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