Fig. 2From: Gene mutations in sporadic lymphangioleiomyomatosis and genotype–phenotype correlation analysisSchematic diagram of detected TSC2 gene mutations. A total of 20 mutations in TSC2 are depicted. All mutations were found only once. The amino acid changes are labeled. The stop-gain (also known as nonsense) and frameshift mutation function types lead to truncated protein products. DUF3384, tuberin, and Rap_GAP are three conserved domains of TSC2Back to article page