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Table 4 Summary of GATA4 sequence variations in blood samples

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 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