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Summary of GATA4 sequence variations in diseased cardiac tissues of patients with CHD |
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| 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 |
|
|
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| NONSYNONYMOUS** |
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| 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 |
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| 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 |
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|
* homozygous genotypes observed ** nonsynonymous mutations in exons 3 and 4 reported earlier (Reamon-Buettner and Borlak, J Med Genet 42:e32) | ||||||||
Reamon-Buettner et al. BMC Medical Genetics 2007 8:38 doi:10.1186/1471-2350-8-38 |
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