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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

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

Fig. 5

Views of the homology model of IgFLNc20-IgFLNc21, where domains 20 and 21 are shown as cartoons and colored in orange and lightblue, respectively. The domain-domain interface are highlighted in green. Residues are shown as sticks. V2297, G2151, and T2287 are shown as ball and sticks; mutations V2297M, T2287P, G2151S are colored with magenta. Note that the CD face of IgFLNc21 is blocked by strand A of IgFLNc20. An insertion of 82 amino acids in IgFLNc20 is shown by dashed line. It is a specific insertion which is absent in filamin A and filamin B

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