Fig. 5.

Identification of disks large homolog-1 gene (DLG1)-associated mutation in a genotype-negative clinically diagnosed Brugada syndrome cohort. A: denaturing high-performance liquid chromatography profiles (normal, blue trace, and abnormal, red trace). B: DNA sequence chromatograms showing a T→C nucleotide change at position 2480 of DLG1 resulting in a methionine (M) to threonine (T) substitution at position 827 (M827T) vs. normal. C: sequence conservation across species for M827T in DLG1. D: the linear topology of synapse-associated protein 97 (SAP97) with mutation localization. PDZ, postsynaptic density protein-95, discs-large, and zona occludens-1; SH3, SRC homology-3 domain; GUK, guanylate kinase.