Variations in the coding regions of SCN1A.

The nomenclature of the amino acid changes uses the single-letter amino acid code with the original residue at the beginning, followed by the open reading frame position and the residue present in the mutant. Exon-intron boundaries are based on the delimiters provided in the NG_011906.1 GenBank record of the SCN1A gene. An effort was made to reference the first report of the mutation. Topological data are taken from the secondary structure suggested in Escayg, A.  et al., Nat Genet 24:343 (2000). Nonstandard denominations: X – termination codon, del – deletion of residue/base, D1/S2 (example): Domain 1/Transmembrane region 2 (topology code indexes “in” and “ex” denote internal and external loop, respectively), NA: nucleic acid.