The mutation is a 2.4-kb genomic deletion encompassing part of intron 17, exon 18, and sequences encoding the 3'-untranslated region (3'-UTR) of the mRNA. This deletion would result in termination of protein translation at valine 440 (Val440Ter) and thus loss of the 55 C-terminal amino acids, which include the entire C-terminal protein kinase C-like domain. (J:125551)