Table 1.
Gene | Total coding exons | Encoded protein (AA) | NCBI GenBank accession # | Chromosomal location | Major phenotype |
Sarcomere | |||||
MYH7 | 38 | 1935 | NG_007884 | 14q11.2 | HCM, RCM, DCM, LVNC |
MYBPC3 | 33 | 1274 | NG_007667 | 11p11.2 | HCM, DCM |
TNNT2 | 15 | 295 | NG_007556 | 1q32.1 | HCM, RCM, DCM, LVNC |
TPM1 | 9 | 284 | NG_007557 | 15q22.2 | HCM, DCM |
MYL3 | 6 | 195 | NG_007555 | 3q21.31 | HCM, LVNC |
MYL2 | 7 | 166 | NG_007554 | 12q24.11 | HCM, LVNC |
ACTC1 | 6 | 377 | NG_007553 | 15q14 | HCM, RCM, DCM, LVNC |
TNNI3 | 6 | 210 | NG_007866 | 19q13.4 | RCM |
MYH6 | 37 | 1939 | NC_000014 | 14q11.2 | HCM, DCM |
TNNC1 | 6 | 161 | NG_008963 | 3p21.1 | HCM, DCM, RCM |
Desmosome | |||||
JUP | 9 | 563 | NG_009090 | 17q21.2 | ARVC |
DSP | 24 | 2871 | NG_008803 | 6p24.3 | ARVC |
PKP2 | 14 | 881 | NG_009000 | 12p11.21 | ARVC |
DSG2 | 15 | 1118 | NG_007072 | 18q12.1 | ARVC |
DSC2 | 16 | 901 | NG_008208 | 18q12.1 | ARVC |
Cytoskeleton, Z-disc, etc. | |||||
ACTN2 | 21 | 894 | NG_009081 | 1q43 | HCM, DCM |
DES | 9 | 470 | NG_008043 | 2q35 | HCM, RCM, DCM, ARVC |
LDB3 | 13 | 732 | NG_008876 | 10q23.2 | HCM, DCM, LVNC |
CSRP3 | 5 | 194 | NG_011932 | 11p15.1 | HCM, DCM |
TCAP | 2 | 167 | NG_008892 | 17q12 | DCM |
SGCD | 8 | 290 | NG_008693 | 5q33.3 | DCM |
TTN | 311 | 33423 | NG_011618 | 2q31.2 | DCM |
DMD | 79 | 3385 | NG_012232.1 | DCM | |
MYPN | 19 | 1320 | NM_032578.2 | 10q21.3 | HCM, DCM, RCM |
PLN | 1 | 52 | NG_009082 | 6q22.31 | HCM, DCM, ARVC |
VCL | 22 | 1134 | NG_008868 | 10q22.2 | HCM, DCM, LVNC |
CRYAB | 3 | 175 | NG_009824 | 11q23.1 | DCM |
CAV3 | 2 | 151 | NG_008797 | 3p25.3 | HCM |
BAG3 | 4 | 575 | NM_004281.3 | 10q26.11 | DCM |
ANKRD1 | 9 | 319 | NM_014391.2 | 10q23.31 | HCM, DCM |
Syndromic | |||||
TAZ | 11 | 292 | NG_009634 | Xq28 | DCM, LVNC |
ALMS1 | 23 | 4169 | NG_011690 | 2p13.1 | |
PTPN11 | 15 | 593 | NG_007459 | 12q24.13 | HCM |
RAF1 | 16 | 648 | NG_007467 | 3p25.2 | HCM, DCM |
Others | |||||
LAMP2 | 9 | 411 | NG_007995 | Xq24 | HCM, DCM |
LMNA | 12 | 664 | NG_008692 | 1q22 | DCM, LVNC |
EMD | 6 | 254 | NG_008677 | Xq28 | DCM |
RYR2 | 105 | 4967 | NG_008799 | 1q43 | ARVC |
ABCC9 | 38 | 1549 | NG_012819 | 12p12.1 | DCM |
SCN5A | 27 | 2015 | NG_008934 | 3p22.2 | DCM |
TMEM43 | 12 | 400 | NG_008975 | 3p25.1 | ARVC |