Figure 1 | Scientific Reports

Figure 1

From: Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

Figure 1

The p.Asp398Asn variant of SMCHD1. (a) The genomic position of the c.G1192A variant. The asterisk in the chromatogram denotes the mutated nucleotide. This variant resided in exon 10, within the hotspot of Bosma arhinia microphthalmia syndrome (BAMS) mutations18. The orange, green, and yellow indicate the GHKL ATPase domain, the transducer domain, and SMC hinge region, respectively. (b) Protein structure prediction of the p.Asp398Asn variant. This variant was predicted to alter multiple hydrogen bonds.

Back to article page