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Table 2 Summary of GATA4 sequence variations in diseased cardiac tissues of patients with CHD

From: Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)

Nucleotide change NM_002052

Coding region

Amino acid change

Location

Positive hearts (n = 29 VSD)

Positive hearts (n = 16 ASD)

Positive hearts (n= 23 AVSD)

Total

PCR-RFLP assay

NONSYNONYMOUS**

        

1599

c.1081A>G

p.Met361Val

exon 6

1

  

1

 

1648

c.1130G>A

p.Ser377Asn

exon 6

1

  

1

 

1806

c.1288C>G

p.Leu430Val

exon 7

 

1

1

2

 

1813

c.1295T>C

p.Leu432Ser

exon 7

 

1

 

1

 

1842

c.1324G>A

p.Ala442Thr

exon 7

1

  

1

 

3'UNTRANSLATED REGION

        

1857

c.+10T>C

 

exon 7

1

2

4

7

EarlI

1891

c.+44T>A

 

exon 7

1

 

3

4

 

1924

c.+77C>T

 

exon 7

2*

 

3*

5

Styl

2065

c.+218C>T

 

exon 7

1

 

3

4

EarlI

2106

c.+259A>G

 

exon 7

1

1

2*

4

 

2127

c.+280T>C

 

exon 7

1

3*

1

5

 

2289

c.+442A>G

 

exon 7

1

1

1

3

 

2309

c.+462T>C

 

exon 7

1

4

1

6

 

2326

c.+479A>G

 

exon 7

1*

1

1

3

NarI

2201

c.+354A>C

 

exon 7, dbSNPrs867858

27AA:2AC

12AA:4AC

19AA:3AC:1CC

58AA:9AC:1CC

MspA1I

2273

c.+426C>T

 

exon 7, dbSNPrs1062219

1CC:8CT:20TT

2CT: 13TT

1CC: 4CT:18TT

2CC:14CT:51TT

 

2364

c.+517T>C

 

exon 7, dbSNPrs884662

9TT:16CT:4CC

4TT:11CT

4TT:15CT:4CC

17TT:42CT:8CC

 

2379

c.+532T>C

 

exon 7, dbSNPrs904018

1TT:9CT:19CC

9CT:6CC

1TT:3CT:19CC

2TT:21CT:44CC

 

2410

c.+563C>G

 

exon 7, dbSNPrs12825

15CC:8CG:6GG

2CC:12CG

15CC:6CG:2GG

32CC:26CG:8GG

 

2434

c.+587A>G

 

exon 7, dbSNPrs804291

1AG:28GG

13GG

23GG

1AG:64GG

 
  1. * homozygous genotypes observed
  2. ** nonsynonymous mutations in exons 3 and 4 reported earlier (Reamon-Buettner and Borlak, J Med Genet 42:e32)
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BMC Medical Genetics

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