Table 4

Summary of GATA4 sequence variations in blood samples

Nucleotide change NM_002052

Coding region

Amino acid change

Location

NCBI dbSNP number

Blood samples CHD

Blood samples normal


NONSYNONYMOUS

1647

c.1129A>G

p.Ser377Gly

exon 6

rs3729856

10AA:2AG

SYNONYMOUS

1217

c.699G>A

p.Thr233

exon 3

1 (GA)

3'-UTR

1967

c.+119A>T

exon 7

2 (AT)

3107

c.+1260G>A

exon 7

1 (GA)

2201

c.+354A>C

exon 7

rs867858

3AA:9AC

53AA:36AC:11CC

2273

c.+426C>T

exon 7

rs1062219

1CC:8CT:3TT

39CC:38CT:23TT

2364

c.+517T>C

exon 7

rs884662

4TT:5CT:3CC

43TT:30CT:27CC

2379

c.+532T>C

exon 7

rs904018

1TT:5CT: 6CC

30TT: 30CT:40CC

2410

c.+563C>G

exon 7

rs12825

8CC:3CG:1GG

69CC:11CG:20GG

2434

c.+587A>G

exon 7

rs804291

12GG

100 GG

3005

c.+1158C>T

exon 7

rs11785481

7CC:5CT

3103

c.+1256A>T

exon 7

rs12458

3AA:9AT

3202

c.+1355G>A

exon 7

rs1062270

11GG:1AG

3368

c.+1521G>C

exon 7

rs3293358

5CC:6CG:1GG

INTRONIC

c.-518-25C>T

intron

2 (1CT:1TT)

c.-458+5A>G

intron

1 (AG)

c.783+16G>A

intron

1 (GA)

c.614-61G>C

intron

rs10503425

8GG:3CG:1CC

27AA:12AC:3CC

c.997+56A>C

intron

rs804280

3AA:7AC:2CC


Reamon-Buettner et al. BMC Medical Genetics 2007 8:38   doi:10.1186/1471-2350-8-38

Open Data