Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

BMC Neurology

Table 4 Candidate genetic variants identified in the Siberian HSP family based on analysis of whole exome sequencing data

Gene symbol	Encoded protein	Amino acid change	Pathogenic prediction/score			Encoded protein expression	Encoded protein function and known disease associations
Gene symbol	Encoded protein	Amino acid change	Pphen/SIFT	CADD	Grant-ham	Encoded protein expression	Encoded protein function and known disease associations
DLGAP2	Disk large associated protein 2	p.D758N	Damaging/deleterious	24.2	23	Brain	Involved in synaptic function and neuronal cell signaling
DSCAML1	Down syndrome cell adhesion molecule like 1	p.I1742N	Damaging/deleterious	31	149	Brain, heart, liver, pancreas, skeletal muscle	Involved in neuronal and axonal migration, cell adhesion, neuronal self-avoidance
DNAH10	Dynein, axonemal, heavy chain 10	p.V3539M	Damaging/deleterious	17.13	21	Brain, testis, trachea	Involved in axonal transport – moving vesicles, organelles, and signaling molecules along the axon
DNM2	Dynamin 2	p.R719W	Damaging/deleterious	14.7	101	Ubiquitously expressed	Clathrin mediated endocytosis and intracellular membrane trafficking. Linked to Centronuclear myopathy and Charcot-Marie-Tooth neuropathy

ISSN: 1471-2377