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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

Fig. 1

Summary of previously reported ANO3 variants. We used TMRPres2D to generate a schematic layout of ANO3 and color to annotate the protein sequence using ExAC allele frequencies and the eight previously reported dystonia-associated missense mutations [19]. The HGMD database associates these variants with dystonia (D), craniocervical dystonia (CD), or dystonia primary torsion (DPT) [20]

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