A G-to-A transition that abolishes the 5' splice acceptor site for exon 4. If exon 3 is able to splice over exon 4 to exon 5, this allele is predicted to cause a frameshift that extends from amino acid 139 to 186, after which a nonsense codon is encountered.
Nucleotide substitution: G?A.
G13000143A
G to A mutation in the splice acceptor site preceding exon 4.