Table 2.
Gene | Protein | OMIM | % of familial HCM cases |
---|---|---|---|
MYH7 | Myosin heavy chain | 160760 | 40% |
Cardiac muscle beta isoform | 192600 | ||
| |||
MYBPC3 | Myosin-binding protein C, cardiac-type | 600958 | 40% |
| |||
TNNT2 | Troponin T, cardiac muscle | 115195 | 5% |
| |||
TNNI3 | Troponin I, cardiac muscle | 191044 | 5% |
| |||
TPM1 | Tropomyosin 1 alpha chain | 115196 | 2% |
191010 | |||
| |||
MYL2 | Myosin regulatory light chain 2 | 160781 | Unknown |
ventricular/cardiac muscle isoform | 608758 | ||
| |||
MYL3 | Myosin light polypeptide 3 | 160790 | 1% |
608751 |