Structure, kinetic properties and biological function of mechanosensitive Piezo channels

Cell & Bioscience

Table 2 Mutations in Piezo1 and Piezo2 Associated with Human Diseases

Protein	Mutation in amino acids	Disease	Channel Domin	Functial phenotype	Reference
Piezo1	A2003D	DHS	PH	Unrepored	[50]
	G718S	DHS		Unrepored	[50]
	G782S	DHS	PH	Unrepored	[50]
	R808Q	DHS	PH	Unrepored	[50]
	S1117L	DHS	PH	Unrepored	[50]
	R2488Q	DHS	CTD	Unrepored	[50]
	K2166–2169 del c	DHS	OH	Unrepored	[50]
	A2020V	DHS	PH	Unrepored	[50]
	M2225R	DHS	CED	Slowed inactivation	[43, 59]
	T2127M	DHS	Anchor	Slowed inactivation	[50, 59]
	R2456H	DHS	IH	Slowed inactivation	[43, 50, 59]
	R1358P	DHS	PH	Slowed inactivation	[59]
	A2020T	DHS	PH	Slowed inactivation	[59]
	E2496ELE	DHS/HA	CTD	Slowed inactivation	[59]
	H702Y	CAP		Unrepored	[60]
	I1007M	CAP		Unrepored	[60]
	V1712M	CAP		Unrepored	[60]
	Y1763X	CAP		Unrepored	[60]
	R1955C	CAP	PH	Unrepored	[60]
	E1630X	GLD	PH	Unrepored	[61]
	E755X	GLD	PH	Unrepored	[61]
	L939M	GLD		Unrepored	[61]
	Q2228X	GLD	CED	Unrepored	[61]
	P2430L	GLD	IH	Unrepored	[61]
	V2171F	GLD	Anchor-OH	Unrepored	[61]
	R2456C	GLD	IH-CTD	Unrepored	[61]
	F2458L	GLD	IH-CTD	Unrepored	[61]
	G2029R	GLD		Unrepored	[62]
	S1153Wfs21 splic donor	GLD	PH	Unrepored	[62]
	G2029R	GLD		Unrepored	[62]
Piezo2	M712I	DA5	PH	Unrepored	[63]
	M712V	DA5	PH	Unrepored	[64]
	M998T	DA5	PH	Unrepored	[64]
	T2221I	DA5	PH	Unrepored	[64]
	S2223L	DA5	PH	Unrepored	[64]
	T2356M	DA5	Anchor	Unrepored	[64]
	R2686H	DA3	IH-CTD	Unrepored	[64]
	R2686C	GS/DA5	IH-CTD	Unrepored	[64]
	R2718L	DA5	CTD	Unrepored	[64]
	R2718P	DA5	CTD	Unrepored	[64]
	Y2737Ifs7*	DA5	CTD	Unrepored	[64]
	S2739P	DA5	CTD	Unrepored	[64]
	W2746X	DA3	CTD	Unrepored	[64]
	E2727del	DA5	CTD	Unrepored	[64, 65]
	I802F	DA5	PH	Faster recovery from inactivation	[65]
	A1486P	DA5	PH	Unrepored	[66]

CED extracellular domain, CTD C-terminal extracellular domain, PH peripheral helices, OH outer helix, IH inner helix, DA5,distal arthrogryposis subtype 5, DHS, dehydrated hereditary stomatocytosis, GLD generalized lymphatic dysplasia, GS Gordon syndrome, HA hemolytic anemia

ISSN: 2045-3701