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Table 3 List of genetic variations identified by HRM analysis

From: High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

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
  1. Genetic variants indicated in bold correspond to mutations, others to SNPs
  2. (a)Human Genome Mutation Database http://www.hgmd.org and Harvard Sarcomere mutation Database http://genepath.med.harvard.edu/~seidman/cg3/;
  3. (b) http://www.ensembl.org/Homo_sapiens/Info/Index.