Table 2 Ankrd1 mutations identified in the patient cohort

HCM

P52A

Increased its binding to titin and myopalladin; displayed higher intensity at the Z–I bands and diffused localization in the cytoplasm, nuclear, and/or at nuclear membrane in the mature cardiomyocytes

[43]

DCM

E57Q

Decreased the repressor activity of Ankrd1 on MLC2v promoter; reversed the inhibition of Ankrd1 on phenylephrine-induced myocardial hypertrophy

[52]

DCM

R66Q

–

[52]

DCM

P105S

Lost its binding to talin-1; enhanced the down-regulation of p53 and upregulation of myogenin

[51]

DCM

V107L

Blocked the decreased expression of TGF-β1 and CASQ2; enhanced the down-regulation of EGR1 and decreased the expression of TNNT1

[51]

DCM

T116M

–

[52]

CHD

T116M

Increased the stability of the Ankrd1 protein; enhanced its repressive effect on ANF promoter activity

[54]

HCM

T123M

Increased its binding to titin and myopalladin; displayed higher intensity at the Z–I bands and diffused localization in cytoplasm, nuclear, and/or at nuclear membrane in the mature cardiomyocytes; Ankrd1T123M-transduced engineered heart tissues (EHTs) showed higher contraction parameters

[43, 44]

DCM

M184I

Lost its binding to talin-1 and FHL2

[51]

CHD

S187F

Enhanced its repressive effect on ANF promoter activity; decreased the nuclear distribution of Ankrd1

[53]

DCM

L199R

Decreased the repressor activity of Ankrd1 on MLC2v promoter; reversed the inhibition of Ankrd1 on phenylephrine-induced myocardial hypertrophy

[52]

DCM

R228M

–

[63]

DCM

A276V

Decreased the repressor activity of Ankrd1 on MLC2v promoter; reversed the inhibition of Ankrd1 on phenylephrine-induced myocardial hypertrophy

[52]

HCM

I280V

Increased its binding to titin and myopalladin; displayed higher intensity at the Z–I bands and diffused localization in cytoplasm, nuclear and/or at nuclear membrane in the mature cardiomyocytes

[43]