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. 2023 Jan 9;9:1080965. doi: 10.3389/fcvm.2022.1080965

TABLE 2.

Mutations that have been reported to cause uncoupling.

Mutation Effect of phosphorylation on Ca2+-sensitivity, pCa50 uP- pCa50 P Measurement method Publication
DCM
ACTC E361G 0.017 In vitro motility assay (IVMA) (37, 38)
TPM1 E54K 0.021 IVMA (38)
TPM1 E40K 0.00 IVMA (38)
TPM1 D230N -0.013 IVMA (38)
TNNC1 G159D -0.013 IVMA/Ca2+ binding (29, 30, 38, 39)
TNNC1 Y5H 0.068 Skinned fiber (40)
TNNC1 M103I 0.017 Skinned fiber (40)
TNNC1 I148V 0.053 Skinned fiber (40)
TNNT2 ΔK210 -0.009 IVMA/skinned fiber (38, 41, 42)
TNNT2 R141W -0.022 IVMA (38)
TNNI3 K36Q -0.009 IVMA/ATPase (38, 43)
HCM
ACTC E99K -0.004 IVMA (44, 45)
TPM1 E180G -0.009 Skinned fiber (45, 46)
TNNC1 L29Q -0.036 Ca2+ binding/ATPase (30, 47, 48)
TNNT2 R92Q 0.041 IVMA (49)
TNNT2 Δ14 0.000 IVMA (49)
TNNT2 Δ28 + 7 0.000 IVMA (49)
TNNT2 ΔE160Q 0.000 IVMA (49)
TNNT2 S179F 0.041 IVMA (49)
TNNT2 K273E 0.041 IVMA (49)
TNNT2K280N 0.041 IVMA (49, 50)
TNNI3 R145G 0.000 IVMA/ATPase (27, 51)
TNNI3 R145W 0.045 IVMA/ATPase (52)
TNNI3 P83S 0.000 Exchanged myofibrils (53)
TNNI3 R21C 0.049 Skinned fiber (35, 51)
TNNI3 G203S 0.057 ATPase/IVMA (28)
TNNI3 K206Q 0.000 ATPase/IVMA (28)