Sap130^em1Clo

This 11 bp deletion beginning at c.1213 in exon 8 is predicted to cause two splice variants resulting in an in-frame deletion from glycine at amino acid 370 through valine at amino acid 405 in splice form a, and a substitution of alanine in place of glycine at amino acid 405 followed by 13 novel amino acids and a premature stop codon in splice form d. (J:242757)