Fig. 2: TMOD1 is identified as a disease gene for cardiomyopathy.
From: Recessive TMOD1 mutation causes childhood cardiomyopathy
a Pedigrees of Family 1 and 2. b Multiple sequence alignment of TMOD1 homologs from different species. c Diagram of the protein with domains. d Modeling of patient variant R189W into the crystal structure of human actin-binding site 2 of TMOD1 (blue) in complex with an actin monomer (white) (Protein Data Bank ID: 4PKI). e Western blotting of TMOD1 and TMOD4 using protein lysates from skeletal muscle biopsies of Patient 1 and three controls. Quantification of TMOD1 and TMOD4 blots relative to vinculin. Data shown are mean ± standard deviation (n = 1 or 3 biologically independent samples). Patient 1 and control samples are shown in black and white bars, respectively.
