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. 2015 Nov 14;4(1):77–94. doi: 10.1002/mgg3.181

Figure 4.

Figure 4

LEMD2 c.T38G is confirmed by Sanger sequencing and is predicted to mutate the LEM domain of LEMD2. (A) LEMD2 c.T38G falls within the first exon of the gene. The PCR amplicon for sequencing is shown (“Your Sequence from PCR Search”). (B) PCR of a trio provides substrate for sequencing. (C) Sanger sequencing of LEMD2 c.T38G in this trio confirms its presence and cosegregation with the phenotype. Sequencing performed in reverse genomic orientation. (D) The variant is predicted to mutate the LEM domain of LEMD2. Domain information obtained from UniProt (http://www.uniprot.org/uniprot/Q8NC56) and Brachner et al. (Brachner et al. 2005). (E) The leucine residue at position 13 (red) of LEMD2 is conserved across species (adapted from UCSC Genome Browser, https://genome.ucsc.edu/index.html). (F) The leucine residue at position 13 (red) is conserved across 5 of 6 LEM domain‐containing proteins in humans, and replaced by isoleucine in ANKLE2.