Table 7.

Overview of functional assessments of CAMK2D missense variants in molecular assays

	Protein stability compared to WT	Phosphotransferase activity compared to WT	Neuronal migration compared to WT	Inferred neuropathological mechanism
Empty vector			increased
p.Ser79Asn	unaffected	mildly decreased	increased	loss-of-function
p.Pro139Leu	unaffected	increased	severely impaired	gain-of-function
p.Gly210Arg	severely decreased	increased	impaired	gain-of-function
p.Gln274Pro	increased	increased	similar	gain-of-function
p.Arg275His	increased	increased	similar	gain-of-function
p.Leu291Phe	increased	severely decreased	impaired	dominant negative