Table 1 Functional mutation analysis of genes associated with heart failure disease.

From: Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases

Gene Name

Missense

Splice

Truncating

Intron

5ʹ Flank

5ʹ UTR

3ʹ Flank

3ʹ UTR

Silent

RNA

Total

Failed Mutations

ACE

12

4

0

120

24

N/A

66

6

15

N/A

247

60

ADM

1

0

0

3

28

N/A

16

2

1

N/A

51

29

ADRB1

5

0

0

N/A

30

2

31

8

5

N/A

81

1779

ADRB2

5

0

0

N/A

38

3

29

2

4

N/A

81

1866

AGTR1

0

0

0

257

40

1

31

12

2

N/A

343

479

AGT

3

0

0

67

37

N/A

24

2

2

N/A

135

718

AMPD1

4

1

1

103

9

N/A

N/A

N/A

1

N/A

119

78

ANKRD1

3

0

0

31

15

1

29

2

 

N/A

81

61

AQP2

0

1

0

28

25

1

8

17

2

N/A

82

85

CDKN2B-AS1

X

X

X

X

X

X

X

X

X

X

X

X

CORIN

5

2

0

1234

17

N/A

2

9

6

N/A

1275

404

CRP

1

0

0

2

32

N/A

8

5

2

N/A

50

291

CST3

2

0

0

16

33

2

67

6

2

N/A

128

254

EDN1

1

0

0

33

32

N/A

38

3

1

N/A

108

1320

EDNRA

0

0

0

296

34

3

21

8

2

N/A

364

438

EPO

0

0

0

9

25

3

15

4

N/A

N/A

56

124

HOTAIR

X

X

X

X

X

X

X

X

X

X

X

X

HSPB7

1

0

0

19

66

3

46

19

4

N/A

158

14

IL6

2

0

0

22

15

N/A

31

 

1

N/A

71

95

KNG1

3

1

1

15

N/A

2

2

1

4

N/A

29

307

LGALS3

4

1

0

83

61

1

N/A

N/A

N/A

N/A

150

474

LSINCT5

X

X

X

X

X

X

X

X

X

X

X

X

MME

3

3

0

953

63

1

1

18

2

N/A

1044

1096

MMP2

1

1

0

456

68

2

N/A

9

9

N/A

546

741

MYBPC3

9

1

1

72

11

N/A

N/A

N/A

10

N/A

104

84

MYH6

3

1

0

74

N/A

N/A

N/A

N/A

11

N/A

89

51

MYH7

4

5

0

105

35

N/A

29

1

16

N/A

195

231

NOS3

7

0

0

143

39

1

1

2

6

N/A

199

116

NPPA

3

0

1

16

25

N/A

N/A

4

N/A

N/A

49

52

NPPB

2

0

0

5

28

N/A

40

N/A

1

N/A

76

244

NPPC

0

0

0

1

23

N/A

36

N/A

N/A

N/A

60

457

NPR1

5

0

0

53

13

3

37

N/A

1

N/A

112

151

NR3C2

3

2

0

2057

27

1

2

6

5

N/A

2103

1079

PIK3C2A

1

1

0

423

37

2

29

4

5

1

503

326

PLN

0

0

0

49

N/A

N/A

N/A

9

N/A

N/A

58

46

REN

1

1

0

108

34

3

N/A

N/A

2

N/A

149

150

RP11-451G4.2

X

X

X

X

X

X

X

X

X

X

X

X

TNF

0

0

0

7

15

N/A

N/A

2

N/A

N/A

24

780

TUSC7

X

X

X

X

X

X

X

X

X

X

X

X

UTS2

3

0

0

30

37

N/A

19

N/A

1

N/A

90

806

VCL

2

0

0

522

42

1

N/A

5

7

N/A

579

875

  1. Tabulated information includes, gene name, missense, splice, truncating, intron, 5ʹ flank, 5ʹ UTR, 3ʹ flank, 3ʹ UTR, silent, RNA, total and failed mutations.
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