Table 2 The variants detected in ABCA3 gene by sequencing in 30 sporadic IPF patients and 30 healthy controls.

From: Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population

Types

*No. of subject

Gender

Age

Smoking

Exon

Nucleotide alteration

Amino acid change

&Detection rate

§P value

Missense variants

P-1

M

69

Yes

15

c.1809G > C

p.Q603H

13/30

0.002

P-2

F

65

No

33

c.5020 G > A

p.G1674S

P-3

F

70

No

5

c.277 G > A

p.V93I

P-7

M

63

Yes

24

c.3613 G > A

p.G1205R

P-9

M

70

Yes

19

c.2483 C > T

p.S828F

P-10

F

62

No

5

c.115 C > G

p.L39V

P-12

M

69

No

15

c.1809G > C

p.Q603H

P-14

M

69

Yes

22

c.3060 T > A

p.N1020K

P-16

M

60

No

5

c.115 C > G

p.L39V

P-19

F

68

No

18

c.2377 G > A

p.E793K

P-21

F

74

No

24

c.3613 G > A

p.G1205R

P-22

M

64

No

8

c.869 T > A, c.2902 G > A

p.L290Q

21

p.V968M

P-26

F

60

No

33

c.4993 A > G

p.I1665V

H-12

F

65

No

16

c.1913G > A

p.R638H

2/30

H-14

F

68

No

16

c.2032 G > A

p.A678T

Synonymous variants

P-1

M

69

Yes

15

c.1755C > G

p.P585P

4/30

1.000

P-4

M

63

Yes

5

c.213 C > T

p.F71F

P-12

M

69

No

5

c.213 C > T

p.F71F

P-18

F

60

No

15

c.1755C > G

p.P585P

H-7

M

64

Yes

15

c.1755C > G

p.P585P

3/30

H-24

M

69

Yes

15

c.1755C > G

p.P585P

H-29

F

73

No

5

c.213 C > T

p.F71F

  1. *P: Patient number; H: Healthy control number; &Number of carriers detected in 30 IPF patients or 30 healthy controls; §A comparison between the rates of variant carriers in 30 IPF patients and 30 healthy controls (Fisher’s exact test).
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