Scn8a^9J

Failed complementation test proved this an allele of Scn8a. A 3 base pair deletion c.5248_5250delATC was identified in the final exon of the gene. This in-frame deletion removes isoleucine codon 1750 in transmembrane segment DIVS6. Deletion of isoleucine 1750 alters the secondary structure of the distal half of the alpha-helix in transmembrane segment DIVS6. Glycosylation of the mutant protein is limited to core glycosylation for a molecular weight of 240 kDa instead of the wild type 260 kDa. (J:230867)