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Fig. 2 | Molecular Brain

Fig. 2

From: Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation

Fig. 2

Identification of a small deletion variant in the TSC2 gene. a Pedigree of the affected family. Closed symbols represent affected family members (I-1, II-1, and III-2). Whole exome sequencing was performed for six family members (I-1, II-1, II-2, III-1, III-2, and III-3). b Confirmation of the identified small deletion variant in the TSC2 gene. The two nucleotide deletion (c.700–701del, chr16: 2106697–2016698) identified in the three affected members was validated by Sanger sequencing of the genomic DNA from six family members. The TSC2 transcript, NM_000548 (RefSeq sequence) with the two nucleotide deletion (c.700–701del; cDNA position 700 and 701) could be translated into a truncated form of the TSC2 protein because of the frameshift at the amino acid position 234, glutamic acid (p.E234fs). c Schematic diagram of the TSC2 protein with the position of the small deletion identified in this study. The variant is located in the TSC1 binding domain (TSC1BD, orange); it is predicted that the variant generates a premature stop codon in the TSC1BD domain. An amino acid multiple sequence alignment of the region near the small deletion for eight different species shows that the region is evolutionally highly conserved. GAP GTPase activating protein domain

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