TABLE 7.

Domain distribution of PDVs and their contact variants.

PDVs				Contacts		Clinical significance of contact variants
Domain	State	WT	Variants	WT	Variants	VUS	P/LP	NP	CIP
PD	Inactivated a	27	38	37	49	29	7	11	2
	Open b			3	5	2	2	1
	Closed b			5	9	2	1	5	1
VSD-I	Activated a	5	13	11	15	8	1	2	4
	Resting c	1	3	3	6	2		2	2
VSD-II	Activated a	4	5	8	10	8			2
	Resting c			6	10	6		2	2
VSD-III	Activated a	3	7	4	6	4		1	1
	Resting c			1	1			1
VSD-IV d	Activated a	4	5	4	4	3	1
	Resting c			2	3	1	2
Total		10	11
		54	82	84	118	65	14	25	14
Set e		w54	PDV	c84	cv118

^aCryo-EM structure.

^bWT residues that have contacts variants in the inactivated PD (cryo-EM structure) are not counted.

^cWT residues that have contacts variants in the activated VSD (cryo-EM structure) are not counted.

^dLocation is not shown for WT residues that do not form contacts with disease-associated residues.

^eNames of the sets are shown in bold.