Lrguk^Kaos

Sequencing revealed a C to T substitution in exon 14 of the gene. Three splice variants are predicted to be encoded by this gene. The longest transcript is the only isoform affected by the mutation. The C to T mutation is predicted to result in the conversion of an arginine at position 528 of the encoded protein to a premature termination codon (R528Stop) and in turn the truncation of 293 residues from the C-terminal region. (J:222840)