Skip to main content
Fig. 4 | Acta Neuropathologica Communications

Fig. 4

From: An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

Fig. 4

Schematic representation of AARS (NP_001596) with the variants previously identified in hereditary neuropathies (top) and other neurological diseases (bottom) represented. Only variants with a clear association with disease and present in Table 1 are represented here. Variants associated with axonal CMT2 are represented in orange. The variant p.Cys152Phe found in this study is represented in bold. The distribution of variants along the protein shows there is no relation between the location of variants with the associated phenotype. Other variants identified in the gene but with less information are summarized in Additional file 1: Table S2. All variants associated with hereditary neuropathies were found in the heterozygous state. Mutations identified in other neurological disorders were found in the homozygous (p.Arg751Gly), compound heterozygous (p.Tyr690Leufs*3;p.Gly913Asp and p.Lys81Thr;p.Arg751Gly) and heterozygous (p.Gly102Arg) states

Back to article page