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) |