Fig. 2From: Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriersProtein level consequence of the identified novel stop-gain dysferlin gene (DYSF) mutation. The diagram illustrates the loss of two C2 domains in DYSF gene due to the identified novel stop-gain. The chromatogram illustrates the Sanger sequencing validation for mutant and wild-type alleles in the affected and unaffected family members. The protein alignment illustrates the nonsense mutation and protein truncationBack to article page