Table 3.
List of genetic variations identified by HRM analysis
| Exon | Mutation(a) or SNP(b) code or reference | Genetic variation | Patient sample code |
|---|---|---|---|
| MYBPC3 | |||
| 4 | rs3729986 | c.465 G > A, p.Val158Met | 1 |
| 5 | rs11570052 | c.565 G > A, p.Val189Ile | 2 |
| 6 | CM043536 | c.706 A > G, p.Ser236Gly | 3, 4, 5 |
| 7 | [24] | c.817 C > T, p.Arg273Cys | 6 |
| 8 | New | c.851 + 95 C > G | 7 |
| 9 | CS041890 | c.852-20 C > A | 2 |
| 13 | Synonym | c.1233 T > G, p.Phe411Phe | 8 |
| 14 | New | c.1454 + 34 G > C | 9 |
| 15 | CM981324 | c.1481 G > A, p.Arg494Gln | 10 |
| CM981325 | c.1502 G > A, p.Arg501Gln | 11, 12, 13 | |
| 16 | [24] | c.1727 G > A; p.Trp576X | 14 |
| Synonym | c.1626 G > C, p.Lys542Lys | 9, 15 | |
| 19 | New | c.1945insT1941-1946delCCTGGA, | 16, 17 |
| p.Pro647fs | |||
| 18 | New | c.1925-24 T > C | 18 |
| 21 | rs3729948 | c.2305 + 18 C > G | 19 |
| 22 | New | c.2344 G > C, p.Val782Leu | 20 |
| 23a | New | c.2470 C > A, p.Leu824Met | 10 |
| CM041808 | c.2523 C > G p.Tyr841X | 21 | |
| New | c.2411-2 A > T | 22 | |
| 24 | rs3729936 | c.2734 + 12 C > T | 19 |
| CM992932 | c.2683 G > A, p.Val895Met | 23, 24 | |
| 25 | CM032959 | c.2824 C > T, p.Arg942X | 1, 25, 26 |
| [24] | c.2759A > T, pGln920Leu | 11, 12 | |
| New | c.2780 C > T;Ser927Leu | 27 | |
| 27 | New | c.3187 + 36 C > A | 28 |
| 28 | New | c.3283 G > A p.Glu1095Lys | 29 |
| 30 | New | c3581G > T, p.Gly1195Val | 7 |
| MYH7 | |||
| 3 | Synonym | c.189 C > T, p.Thr63Thr | 30, 31, 32 |
| 5 | CM034049 | c.502 + 23 T > C | 4, 5, 32, 33 |
| c.427 C > G; p.Arg143Gly | 3 | ||
| 7 | New | c.639 + 31 C > T | 30, 31 |
| Synonym | c.7647 A > G, pAla199Ala | 15, 16 | |
| CM031267 | c.611 G > A, pArg204His | 34 | |
| New | c.613A > T p.Ser205Cys | 30, 31 | |
| New | c.625 C > G, p.Gln209Glu | 80 | |
| 8 | Synonym | c.732 C > T, pPhe244Phe | 35, 36, 37 |
| New | c. 671 A > T, p.Asn224Ile | 37 | |
| 9 | CM981329 | c. 788 T > C, p. Ile263Thr | 18, 27, 38 |
| 11 | CM033923 | C958G > A, p.Val320Met | 39 |
| Synonym | c.975 C > T, pAsp325Asp | 34 | |
| 12 | Synonym | c.1095 G > A, p.Lys365Lys | 3 |
| Synonym | c.1062 C > T, p.Gly354Gly | 3 | |
| Synonym | c. 1128 C > T, p.Asp376Asp | 37, 40 | |
| 13 | CM930503_rs3218714 | c.1208 G > T, p.Arg403Leu | 12 |
| CM032602 | c.1231 G > A, p.Val411Ile | 35, 41 | |
| New | c.1252 C > A, p.Gln418Lys | 42 | |
| 14 | CM003684 | c.1358 G > A; p.Arg453His | 43 |
| 15 | New | c.1408-35 T > C | 44, 45, 46 |
| New | c.1486 C > T, p.Leu496Ser | 47 | |
| 16 | CM920491(G > A) | c.1750 G > C, p.Gly584Arg | 33 |
| 17 | Harvard | c.1954ª > G, p.Arg652Gly | 48 |
| 19 | CM054010 | c.2093 T > C; p.Val698Ala | 39 |
| CM941086 | c.2155 C > T, p.Arg719Trp | 49 | |
| 20 | rs3729818 | c.2163-56 A > G | 8 |
| New | c.2189 T > C, p.Ile730Thr | 32 | |
| CM95212 | c.2221 G > T, p. Gly741Trp | 50 | |
| 22 | CM032607 | c. 2470 G > A, p.Val824Ile | 21 |
| Harvard | c.2539-2541del; p. Lys847del | 51, 52 | |
| New | c.2585 > T, p.Ala862Val | 13 | |
| CM952025 | c.2609 G > A; p.Arg870His | 53 | |
| CM010347 | c.2630 T > A; p.Met877Lys | 54 | |
| CM034055 | c.2644 C > G; p.Gln882Glu | 43, 45 | |
| 23 | CM052262 | C.2702 C > G, p.Ala901Gly | 55 |
| CM042418 | c.2761 G > A; p.Glu921Lys | 56 | |
| CM920494 | c.2770 G > A, p.Glu924Lys | 57, 58 | |
| 24 | Synonym | c.267 T > C, p.Ile989Ile | 35, 40, 59 |
| 32 | CM050712 | c.4472 C > G, p.Ser1491Cys | 60 |
| 37 | CM06819 | c.5305 C > A, p.Leu1769Met | 47 |
| 38 | New | c.5573 G > T, p.Arg1858Met | 59 |
| rs3729833 | c.5655 + 32 G > A | 3, 35, 59, 61 | |
| TNNT2 | |||
| 3 | New | c.42-58 G > A | 61 |
| 4 | CD044989 | c.53-11_53-7del5 (CTTCT) | 12 |
| 7 | rs3729843 | c.164-50 G > A | 62 |
| 9 | Synonym | c.237 G > A, p.Ser79Ser | 63 |
| 10 | Synonym | c.348 T > C,p.Ile116Ile | 64, 65 |
| New | c.406A > T, p. Arg136Trp | 66 | |
| 14 | New | c.722 A > T, p.Lys241Met | 22 |
| CM034583_rs3730238 | c.779A > G, p.Lys260Arg | 67, 68, 69 | |
| New | c.781 + 8 G > A | 33 | |
| 15 | New | c.802-33 C > T | 70 |
| CM031384 | c. 833A > T, p.Asn278Ile | 71, 72 | |
| 16 | New | C.843-35 T > C | 44, 45, 46 |
| rs3729998 | c.888 + 66 G > A | 73 | |
| TNNI3 | |||
| 1 | New | c.-52 A > T | 22 |
| rs3729707 | c.-35 C > A | 22 | |
| 4 | New | c.150 + 27_28CG > GC | 4,56, 48 |
| 7 | CM031378 | c.422 G > A, p.Arg141Gln | 45 |
| New | c.462 G > A, p.Met155Ile | 44, 46 | |
| CM031379 | c.470 C > T, p. Ala157Val | 74 | |
| CM973090 | c.484 C > T, p.Arg162Trp | 15, 75, 76 | |
| New | c.521A > T, p.Lys174Met | 77 | |
| MYH6 | |||
| 2 | New | c.220 G > A, p.Gly56Arg | 37 |
| MYL2 | |||
| 3 | New | c.132 T > C, p.Ile44Met | 35 |
| CSRP3 | |||
| 3 | CD062135 | c.128delC, p.Ala43Valfs165 | 22, 78, 79 |
| New | c.170A > C, p.Tyr57Ser | 62 | |
| CM030827 | c.131 T > C, p.Leu44Pro | 7 | |
Genetic variants indicated in bold correspond to mutations, others to SNPs
(a)Human Genome Mutation Database http://www.hgmd.org and Harvard Sarcomere mutation Database http://genepath.med.harvard.edu/~seidman/cg3/;