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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood

Fig. 3

a Mutation plot and domain organization of the FLNC protein sequence performed using the UniProt database. CH calponin homology domain is marked with green; the ROD1 and ROD2 domains are marked with red, Ig-like domains are numbered from 1 to 24; the dimerization domain is marked with brown. Variants are mapped to the protein structure. b All missense variants were located in conserved regions among different species

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172