Skip to main content
. 2014 Nov 19;23(9):1266–1268. doi: 10.1038/ejhg.2014.256

Figure 1.

Figure 1

Variant in MYH11 in a case with MMIHS. (a) Pedigree and Sanger sequencing confirmation of the c.3598A>T (p.Lys1200Ter) variant identified in our MMIHS patient using exome sequencing. Chromatograms represent the reference (top) and the mutant sequence. The homozygous variant is indicated by the red arrow. (b) Distribution of the variants identified in MYH11. The structure of the human MYH11 protein includes a motor domain (blue), a IQ motif EF-hand binding site (green) and a coiled-coil domain (orange). The variant in red was identified in the current study in a patient affected with MMIHS. Variants c.2135G>A (p.Arg712Gln), c.3791T>C (p.Arg1264Pro), c.3824G>T (p.Arg1275Leu), c.4578+1C>A (p.Leu1456_Asn1526del), c.3720_3792del (p.Arg1241_Leu1264del) and c.5273G>A (p.Arg1758Gln) were found in patients with TAAD associated with patent ductus arteriosus.