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Figure 1 | BMC Medical Genetics

Figure 1

From: A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0

Figure 1

Sequencing electropherograms showing GYS2 mutations. A: Sequencing electropherograms showing the substitution of C to T at nucleotide 736 resulting in a stop codon at exon 5 (c.736 C>T; R243X) (Upper panel) and the exon 7 deletion (GA) plus insertion (C) mutation at nucleotides 966-967 (966_967delGA/insC) also resulting in a premature stop codon (bottom panel). B: Frameshift in the codon sequence which is predicted to result in truncation of the GYS2 protein at amino acid 343.

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