PMC full text:
Published online 2008 May 21. doi: 10.1111/j.1752-8062.2008.00017.x
Table 1
Gene resequencing selection table.
| Gene* | Protein | OMIM | Estimated mutation frequency | Number of Exons | Exons needed to sequence to find one mutation | References |
|---|---|---|---|---|---|---|
| LMNA | Lamin A/C | *150330 | 0.08 | 12 | 150 | 5, 6, 7, 8 |
| titin‐cap TCAP | Titin‐cap or telethonin | *604488 | 0.007 | 2 | 286 | 9 |
| TNNT2 | Cardiac troponin T | *191045 | 0.04 | 15 | 375 | 10, 11, 12 |
| MYH7 | β‐myosin heavy chain | *160760 | 0.10 | 40 | 400 | 10, 13 |
| LDB3 | LIM‐binding domain 3 | *605906 | 0.03 | 13 | 433 | 14 |
| SCN5A | Sodium channel | *600163 | 0.03 | 28 | 933 | 15, 16 |
| CSRP3 | Muscle LIM protein | *600824 | 0.005 | 5 | 1000 | 17 |
| TNNC1 | Cardiac troponin C | *191040 | 0.004 | 6 | 1500 | 18 |
| TNNI3 | Cardiac troponin I | *191044 | 0.005 | 8 | 1600 | 19 |
| TPM1 | α‐tropomyosin | *191010 | 0.006 | 10 | 1667 | 20 |
| VCL | Metavinculin | *193065 | 0.01 | 22 | 2200 | 21 |
| ACTC | Cardiac actin | *102540 | 0.003 | 7 | 2333 | 22 |
| ACTN2 | α‐actinin‐2 | *102573 | 0.009 | 21 | 2333 | 23 |
| SGCD | δ‐sarcoglycan | *601411 | 0.003 | 8 | 2667 | 24 |
| DES | Desmin | *125660 | 0.003 | 9 | 3000 | 25 |
| ABCC9 | SUR2A | *601439 | 0.006 | 38 | 6333 | 26 |
| MYBPC3 | Myosin‐binding protein C | *600958 | ? | 35 | ? | 13 |
| TTN | Titin | *188840 | ? | 363 | ? | 27 |
| MYH6 | α‐myosin heavy chain | *160710 | ? | 39 | ? | 28 |
| EYA4 | Eyes‐absent 4 | *603550 | ? | 20 | ? | 29 |
| PLN | Phospholamban | *172405 | ? | 2 | ? | 30, 31 |
*These genes are autosomal. All mutations previously reported were autosomal dominant except for cardiac troponin I, which was recessive. This is an estimate based upon mutation frequency in FDC/IDC from published accounts, where available, and numbers of exons; see methods for details.