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. 2014 Nov 26;6(11):1156–1165. doi: 10.4330/wjc.v6.i11.1156

Table 1.

List of important genes involved in cardiomyopathy

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