Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

<div>Tertiary structure of SCN5A WT and SCN5A c.4313dup (p.Trp1439ValfsTer32) mutant predicted using AlphaFold (<a href="https://alphafold.ebi.ac.uk/entry/Q14524">https://alphafold.ebi.ac.uk/entry/Q14524</a>) and shown in UCSF Chimera. (a) The blue region in SCN5A WT indicates the frameshift region resulting in 577 amino acids’ deletion in p.Trp1439ValfsTer32 mutant. (b) The red region in SCN5A c.4313dup (p.Trp1439ValfsTer32) mutant (right) shows additional 32 amino acids caused by the frameshift.</div>

Cardiology Research and Practice

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Figure 4

Figure 4: Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A 