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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Figure 1

SACS mutations. Graphical overview of mutations found in this and other studies (Human Gene Mutation database, except gross deletions). Different mutation types are marked with different symbols: missense mutations = squares; insertions/duplications = triangles with downward orientation; deletions = triangles with upward orientation. Sequence variations identified in this study are coloured, with the colour indicating the pathogenicity class: red = pathogenic, orange = likely pathogenic, yellow = uncertain. Known protein domains of the sacsin protein are highlighted in green. AA = amino acid; HGMD = Human Gene Mutation Database.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172