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. 2016 Nov 7;8(12):1421–1437. doi: 10.15252/emmm.201606403

Figure 1. p.L95fs is a novel amyotrophic lateral sclerosis (ALS) causative mutation in SIGMAR1 .

Figure 1

  1. A family tree for the juvenile ALS patient with L95 fs mutation in sigma 1 receptor (Sig1R). The arrow indicates a proband.
  2. Schematic diagram of domain structure of Sig1R, coded by SIGMAR1. Amino acid sequence misplaced by L95fs mutation is shown by a red rectangle. Note that both ALS‐causative mutations (L95fs, E102Q; highlighted with red arrows) are located near the ligand‐binding motif. In addition, recently identified mutations that cause distal hereditary motor neuropathy (dHMN), E138Q, E150K, and a splice‐site mutation resulting in in‐frame deletion of 20 amino acids (Δ31–50) are indicated by green arrows.