Skip to main content

Table 3 Individual patients with Category 1, 2 and 3 variants

From: Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvian population

Patient

CAT

Group

Age

Sex

LDL-C level, mmol/L

Gene ID

AA

PolyPhen-2

SIFT

Mutation taster

4

1

POP

49

M

5,92

LDLR

c.1706-10G > A

-

-

N

16

1

POP

62

M

8,15

APOB

p.(Arg3527Gln)

D

D/T

D

 

3

    

APOB

p.(Glu2566Lys)

B/D

D/T

N

33

1

CAD

82

M

4,80

LDLR

p.(Gly20Arg)

B

D/T

N

52

1

CAD

81

M

7,16

LDLR

p.(Gly20Arg)

B

D/T

N

62

1

POP

23

F

6,23

LDLR

p.(Arg350*)

-

D

D

73

1

POP

65

F

7,56

APOB

p.(Arg3527Gln)

D

D/T

D

 

3

    

APOB

p.(Glu2566Lys)

B/D

D/T

N

 

3

    

APOB

p.(Val2095Glu)

B

D

N

85

1

POP

57

F

6,65

APOB

p.(Arg3527Gln)

D

D/T

D

 

3

    

APOB

p.(Glu2566Lys)

B/D

D/T

N

14

2

CAD

57

M

6,60

APOB

p.(Arg1689His)

D

D

D

25

2

CAD

58

F

5,90

APOB

p.(Tyr144His)

P

D

D

32

2

CAD

66

M

5,28

APOB

p.(Ser3915Cys)

P/D

D

D

123

2

POP

48

M

5,89

APOB

p.(Arg1689His)

D

D

D

11

3

CAD

73

M

5,10

APOB

p.(Arg214Leu)

P

D/T

N

12

3

CAD

62

M

6,06

APOB

p.(Ser2429Thr)

B

T

N

30

3

CAD

59

F

5,76

APOB

p.(Ser2429Thr)

B

T

N

42

3

POP

65

M

5,16

APOB

p.(Val4265Ala)

B

D

N

56

3

CAD

61

M

5,17

APOB

p.(Met755Leu)

B

T

N

90

3

POP

61

F

6,51

APOB

p.(Ile4314Val)

B

D/T

N

118

3

POP

58

F

5,95

LDLR

c.2141-9 T > G

-

-

D

  1. CAT – ours designated category of variant; M – male; F – female; LDL-C – low density lipoprotein cholesterol; AA – amino acid exchange (amino acid numbering according to Human Genome Variation Society [64]); D – probably damaging/damaging; P – possibly damaging; B – benign, T – tolerated; N – polymorphism