Gene | Ensembl number | Location Chromosome: base range | Number (bp) |
---|---|---|---|
MYBPC3 | ENSG00000134571 | chr11:47352958–47374253 | 21295 |
MYH7 | ENSG00000092054 | chr14:23881948–23904870 | 22922 |
TNNI3 | ENSG00000129991 | chr19:55663137–55669100 | 5963 |
TNNT2 | ENSG00000118194 | chr1:201328143–201346805 | 18662 |
TPM1 | ENSG00000140416 | chr15:63334838–63364111 | 29273 |
MYL2 | ENSG00000111245 | chr12:111348626–111358404 | 9778 |
MYL3 | ENSG00000160808 | chr3:46899357–46904973 | 5616 |
ACTC1 | ENSG00000159251 | chr15:35080297–35087927 | 7630 |
TNNC1 | ENSG00000114854 | chr3:52485108–52488057 | 2949 |
MYH6 | ENSG00000197616 | chr14:23851199–23877482 | 26283 |
TTN | ENSG00000155657 | chr2:179390720–179672150 | 281430 |
PDLIM3 | ENSG00000154553 | chr4:186422852–186456712 | 33860 |
CSRP3 | ENSG00000129170 | chr11:19203578–19223589 | 20011 |
DES | ENSG00000175084 | chr2:220283099–220291459 | 8360 |
LMNA | ENSG00000160789 | chr1:156084461–156109878 | 25417 |
LDB3 | ENSG00000122367 | chr10:88428426–88495822 | 67396 |
VCL | ENSG00000035403 | chr10:75757872–75879912 | 122040 |
TCAP | ENST00000309889 | chr17:37821599–37822806 | 1207 |
PLN | ENSG00000198523 | chr6:118869442–118881586 | 12144 |
RBM20 | ENSG00000203867 | chr10:112404155–112599227 | 195072 |
JUP | ENSG00000173801 | chr17:39910859–39942964 | 32105 |
DSP | ENSG00000096696 | chr6:7541870–7586946 | 45076 |
PKP2 | ENSG00000057294 | chr12:32943682–33049780 | 106098 |
DSG2 | ENSG00000046604 | chr18:29078027–29128813 | 50786 |
DSC2 | ENSG00000134755 | chr18:28645944–28682388 | 36444 |
RYR2 | ENSG00000198626 | chr1:237205702–237997288 | 791586 |
TMEM43 | ENST00000306077 | chr3:14166440–14185180 | 18740 |
TGF-β3 | ENST00000238682 | chr14:76424442–76448092 | 23650 |
KCNQ1 | ENSG00000053918 | chr11:2466221–2870339 | 404118 |
KCNH2 | ENSG00000055118 | chr7:150642050–150675014 | 32964 |
SCN5A | ENSG00000183873 | chr3:38589554–38691164 | 101610 |
KCNE1 | ENSG00000180509 | chr21:35818989–35828063 | 9074 |
KCNE2 | ENSG00000159197 | chr21:35736323–35743440 | 7117 |
ANK2 | ENST00000394537 | chr4:113970785–114304894 | 334109 |
CASQ2 | ENSG00000118729 | chr1:116242628–116311426 | 68798 |
CAV3 | ENSG00000182533 | chr3:8775496–8788450 | 12954 |
KCNJ2 | ENSG00000123700 | chr17:68165676–68176181 | 10505 |
PLEC | ENSG00000178209 | chr8:144989321–145025044 | 35723 |
GJA1 | ENST00000282561 | chr6:121756745–121770872 | 14127 |
PKP4 | ENSG00000144283 | chr2:159313476–159537938 | 224462 |
PNN | ENSG00000100941 | chr14:39644387–39652421 | 8036 |
Total | 3285390 |
Ensembl: Feb. 2009 (GRCh37/hg19). The total size of genomic sequence for 41 loci was approximately 3 Mb, which was reduced to 2.1 Mb of capture sequence following the exclusion of repetitive DNA regions in the custom RNA bait library design with eArray (Agilent).
DES, desmin; PLN, phospholamban; VCL, vinculin, MYBPC3: myosin binding protein C, cardiac; MYH7: myosin, heavy chain 7, cardiac muscle, beta; TNNI3: troponin I type 3 (cardiac); TNNT2: troponin T type 2 (cardiac); TPM1: tropomyosin 1 (alpha); MYL2: myosin, light chain 2, regulatory, cardiac, slow; MYL3: myosin, light chain 3, alkali; ventricular, skeletal, slow; ACTC1: actin, alpha, cardiac muscle 1; TNNC1: troponin C type 1 (slow); MYH6: myosin, heavy chain 6, cardiac muscle, alpha; TTN: titin; PDLIM3: PDZ and LIM domain 3; CSRP3: cysteine and glycine-rich protein 3 (cardiac LIM protein); DES: desmin; LMNA: lamin A/C; LDB3: LIM domain binding 3; VCL: vinculin; TCAP: titin-cap; PLN: phospholamban; RBM20: RNA binding motif protein 20; JUP: junction plakoglobin; DSP: desmoplakin; PKP2: plakophilin 2; DSG2: desmoglein 2; DSC2: desmocollin 2; RYR2: ryanodine receptor 2 (cardiac); TMEM43: transmembrane protein 43; THFbeta3: transforming growth factor, beta 3; KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1; KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2; SCN5A: sodium channel, voltage-gated, type V, alpha subunit; KCNE1: potassium voltage-gated channel, Isk-related family, member 1; KCNE2: potassium voltage-gated channel, Isk-related family, member 2; ANK2: ankyrin 2, neuronal; CASQ2: calsequestrin 2 (cardiac muscle); CAV3: caveolin 3; KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2; PLEC: plectin; GJA1: gap junction protein, alpha 1, 43kDa; PKP4: plakophilin 4; PNN: pinin, desmosome associated protein.