Frequencies of TBX1 sequence variants
| dbSNP | Position | SNP | HP1, n = 66 | NP1, n = 12 | P1, n = 78 | HP2, n = 57 | NP2, n = 39 | P2, n = 96 | Control chromosomes | HP, n = 123 | NP, n = 51 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Frequencies of single SNPs in hemizygous patients and healthy, dizygous controls (bracketed numbers are fractions); χ2 analysis showed no significant difference in SNP frequencies between P1, P2, and controls, respectively, or between the presence (HP) v absence (NP) of heart defect in 22q11.2 deletion patients. Variants leading to amino acid sequence substitutions are in bold. | |||||||||||
| HP, combined 22q11.2 deletion patients with congenital heart defects from Germany and Belgium; NP, combined 22q11.2 deletion patients without relevant heart defects from Germany and Belgium; P1, 22q11.2 deletion patients from Germany (HP1 with congenital heart defects, NP1 without congenital heart defects); P2, 22q11.2 deletion patients from Belgium (HP2 with congenital heart defects, NP2 without congenital heart defects); SNP, single nucleotide polymorphism. | |||||||||||
| Exon 1 (5′UTR) | −127g-t (mRNA 3) | 1 (0.02) | 0.01 | 1/164 (0.01) | 0.01 | 0.00 | |||||
| rs737868 | Exon 2 (5′UTR) | −85g-c (mRNA 45) | 41 (0.62) | 7 (0.58) | 0.62 | 34 (0.60) | 22 (0.56) | 0.58 | 104/172 (0.60) | 0.61 | 0.57 |
| Exon 3 | 297g-a, A99A | 3/60 (0.05) | 0.04 | 1/48 (0.02) | 0 (0.00) | 0.01 | 4/142 (0.03) | 0.04 | 0.00 | ||
| Exon 3 | 321g-a, V107V | 1/60 (0.02) | 0.01 | 0/48 (0.00) | 0 (0.00) | 0.00 | 0/146 (0.00) | 0.01 | 0.00 | ||
| Exon 4 | 420t-c, F140F | 14 (0.21) | 2 (0.17) | 0.21 | 12 (0.21) | 13 (0.33) | 0.26 | 54/188 (0.29) | 0.21 | 0.29 | |
| Exon 4 | 444c-t, F148F | 1 (0.08) | 0.01 | 2/188 (0.01) | 0.00 | 0.02 | |||||
| rs2301558 | Exon 5 | 664c-t, L222L | 15 (0.23) | 1 (0.08) | 0.21 | 12 (0.21) | 8 (0.21) | 0.22 | 41/188 (0.22) | 0.22 | 0.18 |
| Intron 7 | IVS7+31c-t | 4 (0.06) | 0.05 | 4 (0.07) | 4 (0.10) | 0.09 | 11/180 (0.06) | 0.07 | 0.08 | ||
| Exon 8 | 933a-g, A311A | 13 (0.20) | 2 (0.17) | 0.19 | 12 (0.21) | 13 (0.33) | 0.25 | 52/174 (0.30) | 0.20 | 0.29 | |
| Exon 9c | 1059a-g, A353A | 4 (0.06) | 0.05 | 4 (0.07) | 4 (0.10) | 0.09 | 7/144 (0.05) | 0.07 | 0.08 | ||
| Exon 9c | 1135–1143del gccggcggc ΔAGG379–381 | 1 (0.02) | 0.01 | 0/166 (0.00) | 0.01 | 0.00 | |||||
| Exon 9c | 1189c-a, N397H | 14 (0.21) | 2 (0.17) | 0.21 | 13 (0.23) | 14 (0.36) | 0.26 | 45/150 (0.30) | 0.22 | 0.31 | |
| Exon 9c | 1353t-c, H451H | 1 (0.03) | 0.01 | 1/158 (0.01) | 0.00 | 0.02 | |||||
| rs4819522 | Exon 9a | 1049c-t, T350M | 8 (0.12) | 0.10 | 8 (0.14) | 3 (0.08) | 0.12 | 32/192 (.17) | 0.13 | 0.06 | |
| Exon 9a (3′UTR) | +24c-g (mRNA 1350) | 1 (0.02) | 0.01 | 3/170 (0.02) | 0.01 | 0.00 | |||||
| Exon 9° (3′UTR) | +131g-t (mRNA 1447) | 27 (0.41) | 2 (0.17) | 0.37 | 22 (0.39) | 19 (0.49) | 0.43 | 79/170 (0.46) | 0.40 | 0.41 | |