Protein | Gene | OMIM ID | Reference sequence(a) | Mutations Known(b)/prevalence(c) |
---|---|---|---|---|
Sarcomeric Proteins | ||||
Cardiac myosin-binding protein C(d) | MYBPC3 | 600958 | NM_000256 | 294/~40 |
β-cardiac myosin heavy chain(d) | MYH7 | 160760 | NM_000257 | 335/~40 |
Cardiac Troponin T(d) | TNNT2 | 191045 | NM_000364 | 60/~5 |
Cardiac Troponin I(d) | TNNI3 | 191044 | NM_000363 | 50/~5 |
Regulatory myosin light chain | MYL2 | 160781 | NM_000432 | 13/~1 |
α-Tropomyosin(d) | TPM1 | 191010 | NM_0001018005 | 24/~2 |
Cardiac actin | ACTC1 | 102540 | NM_005159 | 18/~1 |
Essential myosin light chain | MYL3 | 160790 | NM_000258 | 11/~1 |
Cardiac Troponin C | TNNC1 | 191040 | NM_003280 | 12/rare |
α-myosin heavy chain | MYH6 | 160710 | NM_002471 | 22/rare |
Titin | TTN | 188840 | NM_133378 | 20/rare |
Obscurin | OBSCN | 608616 | NM_052843 | 1/rare |
Desmin | DES | 125660 | NM_001927 | 1/rare |
Caveolin 3 | CAV3 | 601253 | NM_033337 | 1/rare |
Z-band | ||||
Muscle LIM protein (MLP) | CSRP3 | 600824 | NM_003476 | 12/? |
Telethonin | TCAP | 604488 | NM_003673 | 11/? |
Myozenin 2 | MYOZ2 | 605602 | NM_016599 | 2/? |
Vinculin | VCL | 193065 | NM_014000 | 1/? |
Calcium-Handling HCM | ||||
Junctophilin 2 | JPH2 | 605267 | NM_020433 | 4/? |
Phospholamban | PLN | 172405 | NM_002887 | 8/? |
Myosin Light Chain Kinase 2 | MYLK2 | 606566 | NM_033118 | 2/? |
Calsequestrin 2 | CASQ2 | 114251 | NM_001232 | 1/? |
Other non-sarcomeric proteins | ||||
Myosin VI | MYO6 | 600970 | NM_004999 | 1/? |
Solute carrier family 25 member 4 | SLC25A4 | 103220 | NM_001151 | 1/? |
Cytochrome C oxidase assembly protein 15 | COX15 | 603646 | NM_078476 | 2/? |
HCM Phenocopies | ||||
2 subunit of AMP-activated protein kinase | PRKAG2 | 602743 | NM_016203 | 10/? |
V-raf-1 murine leukemia viral oncogene homolog 1 | RAF1 | 164760 | NM_002880 | 1/? |
Frataxin | FXN | 606829 | NM_000144 | 1/? |
Lysosome associated membrane 1 | LAMP2 | 309060 | NM_002294.2 | 1/? |