Nucleotide substitution: G?A. Mutations is at the splice acceptor site for the second exon. This likely prevents normal splicing, leading to read-through of the first intron, which would result in premature termination due to the presence of two consecutive stop codons (the resulting protein product is predicted to contain the signal sequence and only 12 additional amino acids).
G21769744A
G?A
Mutation at the splice acceptor for the second exon; leads to read-through of first intron and early translation termination.