Skip to main content
. Author manuscript; available in PMC: 2017 Aug 1.
Published in final edited form as: Hum Genet. 2016 May 27;135(8):909–917. doi: 10.1007/s00439-016-1685-3

Fig. 1.

Fig. 1

Whole exome sequencing reveals de novo RagC S75Y mutation. A. Family pedigree of sporadic DCM. Square = male; circle = female; solid = affected; open = unaffected; slash = deceased. B. Iterative filtering identified 10 candidate variants in 6 genes. 1000G = 1000 Genomes; DCM = dilated cardiomyopathy; EVS = Exome Variant Server; ExAC = the Exome Aggregation Consortium; MAF = minor allele frequency. C. Sanger sequencing of RRAGC confirmed the c.224C>A, p.S75Y de novo mutation. D. The GTPase domain, comprised of G1-G5, is highly conserved. S75 resides within G1, also known as the P-loop. Dashes = conserved residues; red = switch I region; purple = switch II region.