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. 2014 Oct 24;24(5):1363–1373. doi: 10.1093/hmg/ddu545

Figure 1.

Figure 1.

Identification of GLE1 mutations in ALS patients. (A) Structure of GLE1 gene and hGle1A and hGle1B proteins. Amino acid residues of known functional domains are indicated [adapted from Kendirgi et al. (8)]. Locations of identified changes are shown in red for ALS patients and blue for LCCS1 GLE1-FinMajor mutation. (B) Familial ALS-34 pedigree containing the GLE1-c.1965-2A>C mutation that encodes the hGle1-IVS14-2A>C protein. Genotypes of analyzed family members are indicated (squares, males; circles, females; black symbols, affected individuals; symbols with central dot, unaffected mutation carriers; slash marks, deceased individuals; ‘+’, WT; ‘m’, mutant; ‘NA’, no DNA sample available; asterisk, inferred genotype; numbers to the upper right of individual family members indicate age at death/current age).