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Figure 2 :(a) Electropherograms of the wild-type CA2 gene sequence in a control individual (C) and in the patient with deletion of T at c.DNA251 (A). Sibling is heterozygous for the same mutation (P). (b) Frameshift deletion at cDNA 251 leads to a change in the amino acid sequence (84-89) of the protein with amino acid chain termination due to a stop codon. Active site of CA2 lies downstream in the wild-type protein.

Figure 2 :(a) Electropherograms of the wild-type CA2 gene sequence in a control individual (C) and in the patient with deletion of T at c.DNA251 (A). Sibling is heterozygous for the same mutation (P). (b) Frameshift deletion at cDNA 251 leads to a change in the amino acid sequence (84-89) of the protein with amino acid chain termination due to a stop codon. Active site of CA2 lies downstream in the wild-type protein.