Table 4 Variants found in HCM patients who participated in our study and in-silico prediction for each mutation
From: TCAP gene is not a common cause of cardiomyopathy in Iranian patients
No. | Patient No. | Nucleotide change | Amino Acid Change | Location | Zygosity | rs | Varsome | MutationTaster | Provean | SIFT | CADD | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | HCM1 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
2 | HCM2 | c.316C > T | p.Arg106Cys | Exon 1 | Het | rs45578741 | Benign | polymorphism | Deleterious | Damaging | 28.8 | [17] |
c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] | ||
3 | HCM3 | No mutation found | – | – | – | – | – | – | – | – | – | – |
4 | HCM4 | No mutation found | – | – | – | – | – | – | – | – | – | – |
5 | HCM5 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
6 | HCM6 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [18] |
7 | HCM7 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [18] |
8 | HCM8 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [18] |
c.110 + 48C > T | – | Intron 1 | Het | rs2941510 | Benign | polymorphism | – | – | 6.243 | [18] | ||
9 | HCM9 | No mutation found | – | – | – | – | – | – | – | – | – | – |
10 | HCM10 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
11 | HCM11 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
12 | HCM12 | No mutation found | – | – | – | – | – | – | – | – | – | – |
13 | HCM13 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
c.111–42G > A | – | Intron 1 | Homo | – | Uncertain Significance | polymorphism | – | – | 3.473 | This study | ||
14 | HCM14 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
15 | HCM15 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
16 | HCM16 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
17 | HCM17 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
18 | HCM18 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
19 | HCM19 | No mutation found | – | – | – | – | – | – | – | – | – | – |
20 | HCM20 | No mutation found | – | – | – | – | – | – | – | – | – | – |