Table 1.
HCM | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Mutation | Subject | RT | Ca2+ Sensitivity | F MAX | k ACT | k TR | Slow kREL | Slow tREL | Fast kREL | Refs |
MYH7 | R403Q | Human | - | ↓ | ↑ | ↑ | ↑ | ↓ | ↑ | Belus et al., 2008 | |
TNNI3 | R145G | ex-HcTnI / Tg mouse | ↓ | - | ↓ | ↓ | ↓ | ↑ | ↓ | Krüger et al., 2005 | |
TNNI3 | R145G | ex-RcTnI | ↑ | - | *- | - | ↓ | ↑ | - | Cheng et al., 2015 | |
TNNI3 | R21G | ex-RcTnI | ↑ | - | - | - | ↓ | ↑ | - | Cheng et al., 2015 | |
TNNI3 | P82S | ex-RcTnI | - | - | -Δ | - | -Δ | - | - | Cheng et al., 2016 | |
TNNI3 | K183del | Tg mouse | ↓ | ↑ | - | - | ↓ | ↑ | ↓ | lorga et al., 2008 | |
TNNT2 | R93Q | Tg mouse | - | ↑ | - | - | - | - | - | - | Ferrantini et al., 2017 |
TNNT2 | E163R | Tg mouse | ↑ | ↑ | - | ↑ | ↑ | ↑ | ↑ | ↓ | Ferrantini et al., 2017 |
TNNT2 | K280N | Human tissue | ↑ | - | ↑ | ↑ | ↑ | - | - | Piroddi et al., 2019 | |
TPM1 | D175N | ex-HcTnI | ↑ | Janco et al., 2012 | |||||||
TPM1 | E180G | ex-HcTnI | ↑ | Janco et al., 2012 | |||||||
ACTC1 | E99K | Human tissue | ↑ | - | - | - | ↓ | ↑ | ↓ | Song et al., 2013 | |
DCM | |||||||||||
Gene | Mutation | Subject | RT | Ca2+ Sensitivity | F MAX | k ACT | k TR | Slow kREL | Slow tREL | Fast k REL | Refs |
TTN | R23464Tfs | Human | ↓ | - | - | - | - | - | - | Vikhorev et al., 2017 | |
TTN | R23464Tfs | Human | ↓ | - | - | - | - | - | - | Vikhorev et al., 2017 | |
TTN | Y18923 | Human | ↓ | - | - | - | - | - | - | Vikhorev et al., 2017 | |
MYH7 | E1426K | Human | ↓ | - | - | - | - | ↓ | ↑ | Vikhorev et al., 2017 | |
TNNI3 | K36Q | Human | ↓ | - | - | - | - | ↓ | ↑ | Vikhorev et al., 2017 | |
TNNC1 | G159D | Human | ↓ | - | - | - | - | ↓ | *- | Vikhorev et al., 2017 | |
ACTC1 | E361G | Tg mouse | ↑ | - | - | - | ↑ | ↓ | Vikhorev et al., 2014 | ||
Un-identified | - | Dog | - | ↓ | ↓ | - | ↑ | ↑ | - | - | Cheng et al., 2016 |
RCM | |||||||||||
Gene | Mutation | Subject | RT | Ca2+ Sensitivity | F MAX | k ACT | k TR | Slow kREL | Slow tREL | Fast k REL | Refs |
TNNI3 | R145W | ex-HcTnI | ↑ | ↑ | - | - | -Δ | -Δ | - | Dvornikov et al., 2016 | |
Un-identified | - | Human | ↑ | - | - | - | ↓ | ↑ | ↓ | Jeong et al., 2018 |