Table 5 List of variants of TCAP gene reported in Literature and databases
From: TCAP gene is not a common cause of cardiomyopathy in Iranian patients
No. | DNA Change | AA Change | Variant Type | Location | RS |
|---|---|---|---|---|---|
1 | c.-178G > T | Splicing | 5' UTR | rs931992 | |
2 | c.32C > A | p.Ser11Ter | Nonsense | Exon 1 | rs45495192 |
3 | c.453A > C | p.Ala151 = | Synonymous | Exon 2 | rs1053651 |
4 | c.53G > A | p.Arg18Gln | Missense | Exon 1 | rs45614536 |
5 | c.145G > A | p.Glu49Lys | Missense | Exon 2 | rs45513698 |
6 | c.421C > G | p.Pro141Ala | Missense | Exon 2 | rs45509691 |
7 | c.75G > A | p.Trp25Ter | Nonsense | Exon 1 | rs778851652 |
8 | c.157C > T | p.Gln53Ter | Nonsense | Exon 2 | rs104894655 |
9 | c.637–640delGG | Deletion | Exon 2 | – | |
10 | c.172C > T | p.Gln58Ter | Nonsense | Exon 2 | – |
11 | c.37–39delGAG | p.Glu13del | Deletion | Exon 1 | – |
12 | c.208C > T | p.Arg70Trp | Missense | Exon 2 | rs775636212 |
13 | c.269C > T | p.Pro90Leu | Missense | Exon 2 | rs727504427 |
14 | c. 226C > T | p.Arg76Cys | Missense | Exon 2 | rs572836774 |
15 | c.244C > T | p.Gln82Ter | Nonsense | Exon 2 | – |
16 | c.255C > A | p.Tyr85Ter | Nonsense | Exon 2 | – |
17 | c.316C > T | p.Arg106Cys | Missense | Exon 2 | rs45578741 |
18 | c.388C > T | p.Arg130Cys | Missense | Exon 2 | rs374886575 |
19 | c.472C > A | p.Arg158Ser | Missense | Exon 2 | rs397516863 |
20 | c.493C > G | p.Gln165Glu | Missense | Exon 2 | rs397516865 |
21 | c.410C > T | p.Thr137Ile | Missense | Exon 2 | rs773317399 |
22 | c.458G > A | p.Arg153His | Missense | Exon 2 | rs149585781 |
23 | c.395A > C | p.Glu132Gln | Missense | Exon 2 | – |
24 | c.472C > T | p.Arg158Cys | Missense | Exon 2 | rs397516863 |
25 | c.90–91del | p.Ser31HisfsX11 | Deletion | Exon 1 | rs1555606976 |
26 | c.26–33dupAGGTGTCG | p.Arg12fsX31 | Duplication | Exon 1 | rs778568339 |
27 | c.45–46delTG | p.Cys15Ter | Deletion | Exon 1 | – |
28 | c.100delC | p.Glu35Argfs*33 | Deletion | Exon 1 | – |
29 | c.166insG | p.Gln56Argfs*52 | Insertion | Exon 2 | – |
30 | c.496–499delAGAG | p.Arg166AlafsTer21 | Deletion | Exon 2 | – |
31 | c.171C > G | p.Cys57Trp | Missense | Exon 2 | rs369447207 |
32 | c.109–110delGG | p.Gly37Leufs | Deletion | Exon 1 | – |
33 | c.110 + 5G > A | Intronic | Intron 1 | – | |
34 | c.25–31dup | p.Ser11Ter | Duplication | Exon 1 | rs863224933 |
35 | c.66G > A | p.Trp22Ter | Nonsense | Exon 1 | rs141019458 |
36 | c.*76G > T | Splicing | 3’UTR | rs45506294 | |
37 | c.34dup | p.Glu12fs | Duplication | Exon 1 | rs1555606959 |
48 | c.43–49dup | p.Arg17delinsLeuTer | Duplication | Exon 1 | rs886044421 |
39 | c.103G > T | p.Glu35Ter | Nonsense | Exon 1 | rs779699520 |
40 | c.110_110 + 1del | Deletion | Exon 1 | rs786205076 | |
41 | c.136_137del | p.Gln46Glufs*3 | Deletion | Exon 2 | rs2057249899 |
42 | c.166C > T | p.Gln56Ter | Nonsense | Exon 2 | – |
43 | c.110 + 1G > A | Intronic | Intron 1 | – | |
44 | c.14–15del | p.Glu5fs | Deletion | Exon 1 | – |