Fig. 3.

De novo SPAST gene variant in the patient with SPG4. a Sequencing analysis revealed the heterozygous missense variant (NM_014946.4:c.1330G>C, p.Asp444His) in exon 11 of the SPAST gene in the patient. The arrowhead indicates the position of the c.1330 nucleotide. The patient's parents did not harbor this variant. b Scheme of the structural domains of spastin and the identified variant in the patient. The variant occurred in the ATPases associated with a variety of cellular activities (AAA) domain of spastin, which is crucial for microtubule-severing activity. TM, transmembrane domain; MIT, microtubule interacting and trafficking domain; MIBD, microtubule-binding domain. c Amino acid residue at position 444 is highly conserved across species.