Skip to main content
Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond

Fig. 1

a The domains and location of CMT-causing mutations in LRSAM1. LRR, leucine rich repeat; CC, coiled-coil; SAM, sterile alpha motif; PTAP, Pro-Thr-Ala-Pro motif; RING, really interesting new gene (expanded view). Frameshift mutations are indicated by square indentations, missense mutations by arrows, in-frame changes—circle indentations. Critical residues required for the binding of zinc ions (blue) are indicated in yellow. b LRSAM1 interaction network obtained from STRING using 10 interactors in the first shell and high confidence (0.7). The individual networks were merged using Cytoscape. Squares—proteins, ovals—affected transcripts. Solid lines indicate direct protein–protein interactions. Dashed lines correspond to data obtained from RNAseq experiments. Colours indicated genes with known disease-causing mutations: grey—no known mutations; pale red—CMT; orange—spinocerebellar ataxia; blue—ALS; pink—Alzheimer’s disease; green—Parkinson’s disease; yellow—Huntington’s disease

Back to article page