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Figure 1 | BMC Medical Genetics

Figure 1

From: Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy

Figure 1

Segregation and characterization of DES variants. (A) Pedigree showing segregation of the Lys201ArgfsX20 and Arg429X variants. Filled symbols indicate individuals affected with desminopathy. Arrow indicates proband; + indicates wild-type DES allele. (B) Next generation sequencing alignments. Grey bars indicate no change from the reference sequence. DES DNA sequence is depicted by colored nucleotides, while the protein sequence is depicted underneath in blue. Vertical black lines indicate the nucleotide position where each variant resides.

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