Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models

Table 3 Cell-based studies demonstrating the effect of ATP1A2 mutations in Xenopus oocytes and HeLa cells

Cell type	Mutation	Effect on pump function	Reference
HeLa	L764P	Complete loss	[2, 3, 27]
	W887R	Complete loss	[2, 3, 27]
	G615R	Complete loss	[27]
	R593W	Reduced rate	[2, 41, 42]
	V628M	Reduced rate	[2, 41, 42]
	T345A	Similar to wild-type: lower affinity for potassium	[2, 41, 42]
	M731T	Similar to wild-type: decreased catalytic turnover and increased affinity for potassium	[2, 41, 42]
	R689Q	Similar to wild-type: decreased catalytic turnover and increased affinity for potassium	[2, 41, 42]
Xenopus oocytes	L764P	Complete loss	[43]
Xenopus oocytes	W887R	Complete loss	[43]

ISSN: 1479-7364