Nucleotide substitution at the 3' end of the fourth intron changing the splice acceptor site for exon 5 from AG to AA, resulting in failure to splice out the fourth intron. The first three nucleotides of the intron encode a stop codon truncating the protein at the end of the fourth exon.
G7314879A
G?A
Nucleotide substitution at the 3' end of the fourth intron changing the splice acceptor site for exon 5 from AG to AA, resulting in failure to splice out the fourth intron. The first three nucleotides of the intron encode a stop codon truncating the protein at the end of the fourth exon.