Table 4 Alterations of the putative ESE motifs with these variants detected in sporadic IPF patients and healthy controls.

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

Exon

Nucleotide change

ESE-finder*

SF2/ASF

SC35

SRp40

SRp55

5

c.115 C > G

 

−2/2

  

5

c.213 C > T

    

5

c.277 G > A

 + 1/0

   

8

c.869 T > A

+2/0

−1/1

  

15

c.1755C > G

    

15

c.1809G > C

−1/1

+1/0

+1/0

+1/0

16

c.1913G > A#

    

16

c.2032 G > A#

    

18

c.2377 G > A

−2/2

   

19

c.2483 C > T

   

−1/1

21

c.2902 G > A

−1/1

   

22

c.3060 A > T

  

−1/1

 

24

c.3613 G > A

  

+1/0

 

33

c.4993 A > G

  

−1/1

 

33

c.5020 G > A

 

+1/0

  
  1. *Number of ESE motifs added or abrogated from the variant/number of ESE motifs in the normal allele; #The two variants were only detected in the healthy controls.
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