Enam^Rgsc521

A T-to-A nucleotide substitution disrupts a donor splicing signal in intron 4, changing it from A-GT to A-GA, which results in a splicing error and a frame shift leading to a new stop codon in exon 5. The transcript is most likely degenerated by activation of the nonsense mediated decay pathway, in which case this is a loss-of-function mutation. (J:93014, J:96349)