Fig. 4: Summary of findings in SPAST.
From: Genetic etiology of progressive pediatric neurological disorders
a SPAST protein with domains according to Uniprot, and previously reported disease-causing variants; the variants below the linear graph have been described in children. The vertical axis above depicts the number of patients found in literature. Our novel p.T389I variant resides on the AAA-cassette, considered a mutational hotspot. References for the gene review can be found in supplementary information. b The Thr389 amino acid residue, indicated with yellow shade, is highly conserved throughout species. c Family pedigree, the affected proband was found to have a de novo variant c.1166C>T. The father and his father were affected by a clinically diagnosed HSMN1. d Sanger sequencing confirmed the variant to be de novo. MIT microtubule interacting and trafficking, MTBD microtubule binding ___domain, AAA ATPase associated with diverse cellular activities.
