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Table 2 Mutations in Piezo1 and Piezo2 Associated with Human Diseases

From: Structure, kinetic properties and biological function of mechanosensitive Piezo channels

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]
  1. 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