Table 1

ATP2A2 mutations in patients with Darier’s disease^{17, 24}

Patient	Mutation	Exon	Consequence	Protein domain
*Patients 13 and 14 are related.
M, transmembrane domain; PTC + n, premature termination codon at n amino acid downstream of the mutation.
1	E412G	10	Missense	ATP binding
2	2134delA	15	PTC (+43aa)	Phosphorylation
3	W551X	13	PTC	ATP binding
4	2102del36	15	In-frame deletion	Phosphorylation
5	T357K	8	Missense	Phosphorylation
6	S920Y	19	Missense	M8–M9 loop
8	D702N	15	Missense	Phosphorylation
11	2608delAG	18	PTC (+4aa)	M7–M8 loop
13*	2026insG	14	PTC (+3aa)	Phosphorylation
14*	2026insG	14	PTC (+3aa)	Phosphorylation