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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)