Genetic Diversity of SCN5A Gene and Its Possible Association with the Concealed Form of Brugada Syndrome Development in Polish Group of Patients

Figure 5

(a) Prediction of transmembrane, extracellular in cytoplasmic regions in SCN5a protein. Location of the three new variants is depicted as orange dots. (b) Prediction of functional effects of nonsynonymous mutations done in PolyPhen2 software. All three variants have two scores from HumDiv (genomic oriented) and HumVar (diagnostic oriented). (c) Prediction of intrinsically disordered regions in SCN5a (1–1400AA) done by DISOPRED3. Domain organisation shown with respect to disordered regions. Orange color marks putative binding sites. High confidence score indicated better chance of unstructured fragment.

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