File:Fcvm-09-949294-g001.jpg

English: FIGURE 1. Schematic diagram of potential sarcomere gene mutations involved in HCM. HCM is mainly a disease of sarcomere proteins, which are comprised of thick and thin filaments, Z-Disc, M-lines and calcium regulatory proteins. Shown in the diagram are recognized genes affected in HCM, dashed arrows point to the corresponding proteins. Thick filaments are comprised of MYH7 (myosin heavy chain 7) and MYBPC3 (myosin binding protein C3), MYL2/3 (myosin light chain 2/3) and TTN (titin). Gene screening in HCM patients reach to mutations in MYBPC3 and MYH7, most commonly. ACTC1 (cardiac α-actin 1), TNNT2 (cardiac troponin T), TNNI3 (cardiac troponin I), TNNC1 (cardiac troponin C), and TPM1 (α-tropomyosin) collectively constitute thin filaments. Rare causes of HCM by gene mutations in Z-disc, M line proteins and calcium regulatory proteins are also depicted. Abbreviations: ACTN2, α-actinin 2; CSRP3, cysteine and glycine rich protein 3; MYOZ2, myozenin 2; TCAP, TTN capping protein; FHL1, four and half LIM domain1; OBSCN, obscurin; MYOM2, myomesin 2; TRIM63, tripartite motif containing 63; PLN, phospholamban; JPH2, junctophilin 2; RyR2, type 2ryanodine receptor.